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Published 20 hours ago • verified publisher icon monarch-initiative

spastic pseudosclerosis

Open pnrobinson opened this issue 2 years ago • 1 comments

Mondo term (ID Label) spastic pseudosclerosis https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0010050

Bug/Typo/Error description This is a legacy entry in OMIM https://omim.org/entry/270900 it does not provide an adequate description of a disease, and so it should be retired. @ahamosh Possibly there should be a special place in OMIM for entries like this that do not provide enough information for anybody today to figure out if a patient has the disease in question? I realize OMIM does not like to retire entries, but since people use the counts of OMIM entries to estimate the number of genetic diseases, it would be good to put this in some separate category. The HPO keeps a list of "legacy" entries like this which we would be happy to share.

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pnrobinson avatar Jul 03 '22 16:07 pnrobinson

microcolon is another example of this MONDO:0009628 it should also be obsoleted.

pnrobinson avatar Jul 03 '22 16:07 pnrobinson