primary congenital glaucoma

Summary

DOID:0050593 - primary congenital glaucoma

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cyp1b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000365 - urothelium

MONDO:0000365 - urothelium

MIM:

MIM:613085 - GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C
MIM:613086 - GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

MIM:613085 - GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C

MIM:613086 - GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): glaucoma (is_a), monogenic disease (is_a), physical disorder (is_a)