|OBO ID: DOID:0110953|
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|Term Name:||Waardenburg syndrome type 4A||Search Ontology:|
|Definition:||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. https://www.ncbi.nlm.nih.gov/pubmed/8001158|
|Ontology:||Human Disease (DOID:0110953)|
|is a type of:||