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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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glaucoma 1, open angle, G #4936

Closed pnrobinson closed 1 year ago

pnrobinson commented 2 years ago

Mondo term (ID Label) glaucoma 1, open angle, G and related terms Glaucoma 1, open angle, I is not a hereditary form of glaucoma, it is a locus that confers increased risk for the complex (common) form of glaucoma. Also, the various grades of glaucoma (B-H) do not represent different diseases and are difficult to measure in the clinic (discussion with Dr Ladewig) and also are not specifically related to Glaucoma 1, open angle, I]

Bug/Typo/Error description Suggestion -- 1) obsolete Glaucoma 1, open angle, I -- it is a susceptibility locus for the disease open-angle glaucoma rather than a separate disease 2) obsolete all of its subclasses, they are also not separate diseases @ahamosh do you agree about the distinction between susceptibility locus and disease?

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nicolevasilevsky commented 1 year ago

I'll go ahead and obsolete these terms. If there are further revisions needed, we can address them on another ticket, thanks!

ValWood commented 1 year ago

Hi,

there seems to be quite a lot of evidence that WDR36 is a causative gene for open angle, G (obsolete MONDO:0012357)

PMID: 34681019 PMID: 29104481

val

ValWood commented 1 year ago

I guess it isn't conclusive and it's only an association at present.