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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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OMIMPS:125310 AND MONDO:0007432 #2531

Closed maglott closed 3 years ago

maglott commented 3 years ago

Mondo term (ID and Label): MONDO:0007432/CADASIL

Xref that should be fixed (ID and label):

OMIMPS:125310

The phenotypic series is NOT limited to autosomal dominant forms, and thus should not be equated with CADASIL. Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here

Other comments:

nicolevasilevsky commented 3 years ago

Great catch @maglott. I agree.

I think we could leave MONDO:0007432/CADASIL equiv to OMIMPS:125310, but Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy is equiv to MONDO_0000914 'CADASIL 1'.

I am moving other xrefs as well to the appropriate subclasses, it seems like there is some conflation going on.