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DO Term : Waardenburg syndrome type 1 [DOID:0110948] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
  • synonyms:
  • UMLS_CUI:C1847800,
  • 193500,
  • NCI:C75008,
  • Waardenburg syndrome type I,
  • WS1,
  • SNOMEDCT_US_2023_03_01:1010606009,
  • MESH:D014849,
  • OMIM:193500,
  • ORDO:894
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents