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DO Term : Waardenburg syndrome type 4C [DOID:0110955] 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 mutation in the SOX10 gene on chromosome 22q13.
  • synonyms:
  • Waardenburg syndrome type IVC,
  • OMIM:613266,
  • WS4C,
  • Waardenburg syndrome with Hirschsprung disease type 4C,
  • 613266
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