Waardenburg syndrome type 2A

Definition

Waardenburg syndrome Type 2 caused by mutations in the MITF gene.

Also known as MITF Waardenburg syndrome type 2, Waardenburg syndrome type 2 caused by mutation in MITF, Waardenburg syndrome type 2A, Waardenburg syndrome type IIA, WS2A — per MONDO

Also identified as

• DOID 0110950 per MONDO
• MESH C536464 per MONDO
• NCIT C75011 per MONDO
• OMIM 193510 per MONDO
• UMLS C1860339 per MONDO