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Add xref to DOID:1440 #1357

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nmah opened this issue Jul 3, 2024 · 1 comment
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Add xref to DOID:1440 #1357

nmah opened this issue Jul 3, 2024 · 1 comment
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@nmah
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nmah commented Jul 3, 2024

Machado-Joseph disease, needed review.

For the "Machado-Joseph disease", I would like to suggest to create a cross-reference between the DOID term and the ORDO term:
Machado-Joseph disease [http://purl.obolibrary.org/obo/DOID_1440] and Spinocerebellar ataxia type 3 [http://www.orpha.net/ORDO/Orphanet_98757]

This is the same disease in both ontologies, and each ontology term is cross-referenced to UMLS_CUI:C0024408 and MESH:D017827.
Both Orphanet [https://www.orpha.net/en/disease/detail/98757] and Wikipedia [https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease] state that "Spinocerebellar ataxia type 3" and "Machado-Joseph disease" are synonyms of the same disease.

@allenbaron allenbaron self-assigned this Jul 10, 2024
@allenbaron allenbaron added this to the July 2024 release milestone Jul 10, 2024
@allenbaron
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You are absolutely right. Thanks for pointing this out and including details to speed up review.

The suggested xref and another to GARD:6801 will both be included on DOID:1440 in the next release.

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