ORDO: Autosomal dominant non-syndromic intellectual disability is classified as etiological subtype

monarch-initiative / monarch-disease-ontology-RETIRED

THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build

17 stars 9 forks source link

Closed cmungall closed 6 years ago

cmungall commented 6 years ago

This throws us off a bit as we give lower prior weights to classifying diseases under etiological subtypes

I think this is something unique to ORDO, as it doesn't seem to be in the source orphanet? http://orpha.net/consor/cgi-bin/OC_Exp.php?Expert=377795

cc @annieolry

cmungall commented 6 years ago

Same for AR:

siiraa commented 6 years ago

Hi, This is the ORDO issue at source, we do not have control over it. This same term in EFO, as we imported it a few years ago, is asserted under 'Rare intellectual disability without developmental anomaly' only. See https://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_178469 .

We can fix anything that we import into EFO, but if it is at source that needs to be fixed, we'd have to contact Orphanet directly.

nicolevasilevsky commented 6 years ago

closing, looks like this was fixed