Glaucoma 3A

Definition

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

Also known as glaucoma 3, primary congenital, type a, glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Primary Congenital glaucoma 3A — per MONDO

Also identified as

• DOID 11211 per MONDO
• ICD9 743.21 per MONDO
• NCIT C148260 per MONDO
• OMIM 231300 per MONDO
• Orphanet 98976 per MONDO
• UMLS C1856439 per MONDO

Affected Organs