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monarch-initiative / monarch-legacy

Monarch web application and API
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familial hypercholesterolemia omim mapping concern #1371

Open larrybabb opened 8 years ago

larrybabb commented 8 years ago

https://monarchinitiative.org/disease/OMIM:144010 is a parent of https://monarchinitiative.org/disease/OMIM:143890

in the emerge network we are trying to settle on an id that is the "group" term for familial hypercholesterolemia, so naturally I picked the parent above. However, geneticists using omim directly pick 143890 the child to represent this concept and then have the parent map to "Hypercholesterolemia, due to ligand-defective apo B". I see that there is a DOID as an equivalent id on the parent omim above.

Why wouldn't the DOID concept be the parent of both? I am a technical guy not a geneticist so please pardon my ignorance of the complexities behind how the hierarchy is assembled.

Thanks.

cmungall commented 8 years ago

This issue was moved to monarch-initiative/monarch-disease-ontology#157

cmungall commented 8 years ago

Thanks @larrybabb -- this is a concern. I've moved this over to our disease tracker