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EBISPOT / efo

Github repo for the Experimental Factor Ontology (EFO)
https://www.ebi.ac.uk/efo/
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question about xref for EFO_0004253 nephrolithiasis #24

Closed nicolevasilevsky closed 6 years ago

nicolevasilevsky commented 6 years ago

The class EFO_0004253 nephrolithiasis has an xref to OMIM:605990, which I think may be incorrect, as that class is named NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO.

nicolevasilevsky commented 6 years ago

actually, the annotation is a OMIM_definition_citation, is that different than an xref? Apologies if so!

siiraa commented 6 years ago

Hi Nicole, Does MonDO offer a mechanism to relate susceptibility to a disease? I think this crept in at one of our projects that needs to link an OMIM term from their resource to an EFO disease term. Reading OMIM definition, this seems to be related and this is probably their way of grouping the marker making the subject susceptible to a disease, to the actual disease. I probably should not remove this xRef yet at the moment. Is it breaking MonDO?

@simonjupp - we might need to have a conversation with OpenTargets re:susceptibility modeling. This has been a long standing issue.