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DO Term : Waardenburg syndrome type 4A [DOID:0110953] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Waardenburg 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.
  • synonyms:
  • Waardenburg syndrome type IVA,
  • 277580,
  • WS4A,
  • Waardenburg syndrome with Hirschsprung disease type 4A,
  • OMIM:277580
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