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DO Term : Waardenburg syndrome type 2E [DOID:0110956] 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 absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
  • synonyms:
  • Waardenburg syndrome type IIE,
  • WS2E,
  • WS2E with or without neurological involvement,
  • hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation,
  • Waardenburg syndrome type 2E with or without neurologic involvement,
  • OMIM:611584,
  • 611584
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