JSON

Waardenburg syndrome type 4A

^ http://purl.obolibrary.org/obo/DOID_0110953


A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/8001158 ]

Synonyms: WS4A, Waardenburg syndrome type IVA, Waardenburg syndrome with Hirschsprung disease type 4A

Term info

Term relations

Subclass of: