/glaucoma 3A

glaucoma 3A

Rare Disease

MONDO:0009277

Also Known As

buphthalmosPrimary Congenital glaucoma 3Aglaucoma 3, primary congenital, type aglaucoma 3A, primary open angle, congenital, juvenile, or adult onsetsimple buphthalmosGLC3Aglaucoma 3, primary congenital, Aglaucoma, congenitalglaucoma, primary open angle, adult-onsetglaucoma, primary open angle, juvenile-onset

Definition

An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.

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Associated Genes

CYP1B1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

anterior segment dysgenesis 6

MONDO:0015016

Rare

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