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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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review DOID:0081427 #1295

Closed tutajm closed 4 months ago

tutajm commented 5 months ago

In the last release term DOID:0081427 [autosomal recessive distal hereditary motor neuronopathy 8] has been added.

1) xref: OMIM:619216 seems to be wrong -- it was already listed for DOID:0081426

2) The new term seems to be a duplication of existing term DOID:0081376 [sorbitol dehydrogenase deficiency with peripheral neuropathy]. According to https://www.omim.org/entry/618912 , [autosomal recessive distal hereditary motor neuronopathy 8] and [sorbitol dehydrogenase deficiency with peripheral neuropathy] are considered synonymous.

Please review.

allenbaron commented 5 months ago

Thanks Marek. We'll review it.

lschriml commented 4 months ago

Thank you Marek for pointing this out. I have fixed the OMIM IDs.

I have merged sorbitol dehydrogenase deficiency with peripheral neuropathy into DOID:0081427 [autosomal recessive distal hereditary motor neuronopathy 8

Cheers, Lynn