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monarch-initiative / monarch-disease-ontology-RETIRED

THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build
https://github.com/monarch-initiative/mondo-build
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ORDO: X-linked nonsyndromic deafness #408

Closed cmungall closed 6 years ago

cmungall commented 7 years ago

Similar to #407

This one also dubious:

https://www.ebi.ac.uk/ols/ontologies/ordo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_90625

image

Another issue is dual classification under prelingual and postlingual:

image

This one also not found here: http://orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90625

obsoleted?

cc @annieolry

pnrobinson commented 7 years ago

One further issue here is that DFN itself is not meaningful as an abbreviation (AFAIK), it should be further specified. See https://www.ncbi.nlm.nih.gov/books/NBK1434/

siiraa commented 7 years ago

What EFO imported in has the classification as seen here - https://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_90625

If ORDO has a fix that we should reflect in EFO, please let us know. Thank you.

nicolevasilevsky commented 6 years ago

this looks like it was fixed

cmungall commented 4 years ago

This coming up again

I don't think it makes sense to equivalenceify

https://omim.org/phenotypicSeries/PS304500

and

https://www.ebi.ac.uk/ols/ontologies/ordo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_90625

The ordo class is for nonsyndromic forms

the PS has syndromic forms, e.g. https://omim.org/entry/301018

which in ordo is https://www.ebi.ac.uk/ols/ontologies/ordo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_500188

nicolevasilevsky commented 4 years ago

Sounds like we should split these terms in Mondo? I'll create a ticket in the new Mondo tracker