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Summary Literature (0)
DOID:11211 - buphthalmos


Disease Ontology Definition:A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.

Synonyms: simple buphthalmos

Xenbase Genes : cyp1b1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009277 - glaucoma 3A

OMIM:
OMIM:231300 - GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hydrophthalmos (is_a)