Possible duplication between HP_0001332 "Dystonia" and MONDO_0003441 "dystonic disorder"

Open tskir opened this issue 3 years ago • 1 comments

There are two separate terms in EFO, one imported from HPO and another from MONDO:

Dystonia: https://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FHP_0001332
dystonic disorder: https://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0003441

I'm not entirely sure, but it looks like this could be an unintentional duplication. In any case, I couldn't find any distinction between these two names in the literature

Jun 20 '22 18:06 tskir

Hi @tskir, this is an unfortunate side effect of importing from external ontologies in different domains that sometimes overlap. We have many cases in EFO where we have a phenotype term (from HPO) and a disease term (from Mondo) with similar or the same label. Both concepts are similar, just one refers to the phenotype and one to the disease. This is something we have continuously looked into figuring out a solution for: https://github.com/EBISPOT/efo/issues/750

I will add this ticket to the epic linked above.

Jul 01 '22 10:07 zoependlington