paolaroncaglia
commented
5 years ago @twhetzel @simonjupp @zoependlington In reply to Trish' question above: I think there are several issues at play here. I'll list them for the specific case Trish mentions (dilated cardiomiopathy), but they probably apply to (many?) other disease terms imported from non-MONDO ontologies: 1) EFO:0000407 'dilated cardiomiopathy' probably inherited many synonyms from another ontology (maybe NCIT, based on the definition), where several related typed of cardiomiopathies may have been conflated in a single entry. EFO 2 had them all as alternative_terms because it didn't distinguish between exact and non-exact synonyms. 2) In EFO3, the dilated cardiomiopathy branch has grown to include some MONDO terms. Also, all of the old alternative_terms of the parent term have become exact synonyms. Based on the new improved hierarchy under the parent term, it should now be possible to review all its synonyms and change their scope. In Trish' example above, I'd say that 'Familial Idiopathic Cardiomyopathies' should be a related synonym of 'dilated cardiomiopathy'. But are we going to do this for all terms that have similar issues? 3) In addition, it seems that 'dilated cardiomiopathy' has now inherited some related synonyms from MONDO. I think it's safe to leave those as they are. (Update: Chris confirmed that 'related' synonyms in MONDO haven't been reviewed (mostly), so it is indeed safer to keep them as related.)
This might need discussion. We also have a ticket on synonym policy in general, so I'll link it here: https://github.com/EBISPOT/efo/issues/276
Are all of the synonyms for "dilated cardiomyopathy" [1] actually synonyms for this term versus additional child terms, e.g.
[1] https://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fwww.ebi.ac.uk%2Fefo%2FEFO_0000407