Autosomal dominant nonsyndromic hearing loss 3A

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.

Also known as GJB2-AD NSHL, GJB2-related autosomal dominant nonsyndromic hearing loss — per MONDO

Also identified as

• DOID 0110564 per MONDO
• MESH C567277 per MONDO
• OMIM 601544 per MONDO
• UMLS C2675750 per MONDO