12. Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome -> Weill-Marchesani syndrome

monarch-initiative / monarch-disease-ontology-RETIRED

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12. Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome -> Weill-Marchesani syndrome #191

Closed nicolevasilevsky closed 6 years ago

nicolevasilevsky commented 7 years ago

I don't see any issues with this one, I think we should leave it. Orphanet maps Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome to OMIM 608328 Weill-Marchesani syndrome 2. It makes sense to me that Weill-Marchesani syndrome 1 and 2 are children of Weill-Marchesani syndrome.

see report

pnrobinson commented 7 years ago

Looks good to me too

cmungall commented 7 years ago

OK, as we think this is relatively clear cut shall we make a request to orphanet to incorporate the subclass?

nicolevasilevsky commented 7 years ago

I will email Orphanet. For some reason I cannot tag Annie in this repo.

nicolevasilevsky commented 7 years ago

@annieolry