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DO Term : Waardenburg syndrome type 4B [DOID:0110954] 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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.
  • synonyms:
  • WS4B,
  • Waardenburg syndrome with Hirschsprung disease type 4B,
  • Waardenburg syndrome type IVB,
  • OMIM:613265,
  • 613265
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Ontology Term --> Direct parents





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