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Ontology table 'Diseases' is incomplete #4530

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hslh opened this issue Nov 29, 2024 · 0 comments
Open
1 task done

Ontology table 'Diseases' is incomplete #4530

hslh opened this issue Nov 29, 2024 · 0 comments
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app:catalogue bug Something isn't working

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@hslh
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hslh commented Nov 29, 2024

Have you checked if this issue already exists?

  • yes

Molgenis EMX2 version

v11.131.1, DB v23

Description

The Diseases ontology table is missing data in several ways:

  1. Some ICD-10 entries are missing, e.g. K25.7
  2. Some Orphanet entries are missing, e.g. 641613
  3. The 'code'-attribute is empty for higher-level items of ICD-10, e.g. F20-F29
  4. The 'codesystem'-attribute is empty for ICD-10 items which are linked to Orphanet codes in the definition, e.g. F20.8
  5. The 'order'-attribute is missing in some cases, e.g. N02.8

Reproduction steps

  1. Go to 'https://data-catalogue.molgeniscloud.org/CatalogueOntologies/tables/#/Diseases'
  2. Try searching for the example values mentioned above, see the described problems
  3. Compare and contrast with the Directory's DiseaseTypes ontology 'https://directory.bbmri-eric.eu/DirectoryOntologies/tables/#/DiseaseTypes'

Expected behaviour

I expect the ontology to be complete

Plan

Rather than fixing the Diseases ontology, we'd be better off just copying the DiseaseTypes ontology. So, map the existing Diseases ontology to DiseaseTypes, replace the ontology and update existing catalogue data using the mapping.

@hslh hslh added the bug Something isn't working label Nov 29, 2024
@hslh hslh self-assigned this Nov 29, 2024
@hslh hslh linked a pull request Nov 29, 2024 that will close this issue
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