Waardenburg syndrome type 2D

Definition

Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.

Also known as SNAI2 Waardenburg syndrome type 2, Waardenburg syndrome type 2 caused by mutation in SNAI2, Waardenburg syndrome type IID, WS2D — per MONDO

Also identified as

• DOID 0110952 per MONDO
• MESH C563839 per MONDO
• OMIM 608890 per MONDO
• UMLS C1837203 per MONDO