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[Revise subclass] ataxia-telangiectasia-like disorder 1 should be is-a DNA repair disorder?
Revise subclass
#8436
opened Nov 24, 2024 by
ValWood
OMIM gene pipeline should not result in gene associations being added to deprecated Mondo classes
tech
issue requiring work from the technical team
#8435
opened Nov 23, 2024 by
twhetzel
EMC pipeline or Mondo QC checks should not allow a synonym that does not meet the formatting rules into Mondo
tech
issue requiring work from the technical team
#8421
opened Nov 20, 2024 by
twhetzel
Request for new synonym 'developmental and epileptic encephalopathy, 14'
epilepsy
synonym
#8412
opened Nov 19, 2024 by
nicolevasilevsky
[Obsolete] MONDO:0010760 XH antigen
merge
on list
Added to the obosletion or merge candidate list.
user request
A request from an external user
#8409
opened Nov 18, 2024 by
kanems
Request for new synonym [DYNC2H1-related Short Rib Thoracic Dysplasia]
synonym
#8405
opened Nov 15, 2024 by
elliebroeren
[Merge] MONDO:0001389 'congenital coronary artery anomaly' with MONDO:0015203 'coronary artery congenital malformation'
merge
on list
Added to the obosletion or merge candidate list.
#8360
opened Nov 12, 2024 by
twhetzel
POLR (3) related leukodystrophies [Revise subclass]
Revise subclass
#8351
opened Nov 12, 2024 by
kanems
New Term Request: Intellectual disability, autosomal recessive
New term request
#8327
opened Nov 11, 2024 by
Jciesielka1
Synonym Request for DPH5-related diphthamide-deficiency syndrome
synonym
#8326
opened Nov 11, 2024 by
Jciesielka1
[Merge] MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy'
epilepsy
merge
on list
Added to the obosletion or merge candidate list.
#8324
opened Nov 8, 2024 by
nicolevasilevsky
[Obsolete] MONDO:0020627 'epileptic encephalopathy, infantile or early childhood'
obsolete
This includes both obsolete and merge requests
on list
Added to the obosletion or merge candidate list.
#8320
opened Nov 8, 2024 by
nicolevasilevsky
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