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DO Term : Waardenburg syndrome type 2B [DOID:0110947] 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 variation in the chromosome region 1p21-p13.3.
  • synonyms:
  • OMIM:600193,
  • 600193,
  • Waardenburg syndrome type IIB,
  • MESH:C536465,
  • GARD:5522,
  • WS2B
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Disease

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Ontology

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