obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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primary angle closure glaucoma #404

Closed obophenotype-user closed 9 years ago

obophenotype-user commented 9 years ago

Dear Peter

I’ve got a question on HPO please.

I’ve been running exomiser on some exome data from ‘primary angle closure glaucoma’ patients

using corresponding HPO term “HPO:0012109”.

Yesterday during a meeting with the ophthalmologists who own the data we checked the definition for

HPO:0012109 on http://compbio.charite.de/phenexplorer/ , that is “A type of glaucoma with optic nerve damage in an eye that does not

have evidence of angle closure and in which there is no evidence of a secondary cause.”, and thought there might be an error.

The definition should read something like:

“A type of glaucoma with optic nerve damage in an eye that does

have evidence of angle closure and in which there is no evidence of a secondary cause.”

We were wondering if that definition in any way can affect the analysis results and

whether you could amend the definition on the HPO links.

Reported by: pnrobinson

Original Ticket: obo/human-phenotype-requests/404

obophenotype-user commented 9 years ago

Original comment by: pnrobinson

obophenotype-user commented 9 years ago

Fixed definition as suggested

Original comment by: pnrobinson