MeSH Browser

MeSH Supplementary: Waardenburg syndrome, type 4
Unique ID: C536467
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536467
Entry Term(s): Hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; Waardenburg Syndrome With Hirschsprung Disease, Type 4a; Waardenburg Syndrome, Type 4a; Waardenburg Syndrome, Type Iva; Waardenburg-Hirschsprung disease; Waardenburg-Shah syndrome
Registry Numbers: 0
Heading Mapped to: *Hirschsprung Disease; *Waardenburg Syndrome
Frequency: 28
Note: An autosomal dominant or recessive form of Waardenburg Syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital SENSORINEURAL HEARING LOSS, and Hirschsprung disease. Mutations in the EDNRB gene have been identified. OMIM: 277580
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

Waardenburg syndrome, type 4 MeSH Supplementary Concept Data 2025