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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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DOID:0080060 add SCAR synonyms #1253

Closed lschriml closed 8 months ago

lschriml commented 8 months ago

Email from wilmil@jax.org, Comment for term: DOID:0080060

Could you add SCAR12 as synonym (like in many of the other SCARs). Also add similar SCAR# synonyms to other SCARs that don't yet have that synonym. Helps enormously with search.

csbjohnson commented 8 months ago

Of course, this additions have been implemented and pushed to main.

LaurensWilming commented 8 months ago

Don't forget to include the OMIM xrefs where appropriate!

Cheers.

allenbaron commented 8 months ago

Thanks @LaurensWilming. That's a good reminder.

I just confirmed that we have all the diseases in the SCAR phenotypic series and they all have OMIM xrefs. We also have SCAR synonyms for diseases that have become part of other PS (i.e. SCAR1 & 9), except for 'Galloway-Mowat syndrome 1' (DOID:0060364) which was SCAR5 (OMIM:251300).

@csbjohnson, can you add the appropriate SCAR synonyms to DOID:0060364 as well for completeness.

csbjohnson commented 8 months ago

Thank you all!

I added the appropriate SCAR synonyms to the 29 autosomal recessive spinocerebellar ataxia types we have in the DO.

@allenbaron DOID: 0060364 represents Galloway-Mowat syndrome 1 which I don't believe would use SCAR as a synonym.