Human Disease Ontology

Last uploaded: June 28, 2024
Preferred Name

primary congenital glaucoma

Synonyms
Definitions

Xref MGI. A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.

ID

http://purl.obolibrary.org/obo/DOID_0050593

comment

Xref MGI.

database_cross_reference

MIM:613085

MIM:613086

definition

A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.

disease has basis in

http://purl.obolibrary.org/obo/SO_0000704

http://purl.obolibrary.org/obo/HP_0001197

has_obo_namespace

disease_ontology

id

DOID:0050593

label

primary congenital glaucoma

notation

DOID:0050593

prefLabel

primary congenital glaucoma

subClassOf

http://purl.obolibrary.org/obo/DOID_1686

http://purl.obolibrary.org/obo/DOID_0050177

http://purl.obolibrary.org/obo/DOID_0080015

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