Version: 8.0.0
Date: Tue Jan 28 2025
Waardenburg syndrome type 1
DOID:0110948
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Waardenburg syndrome type 1

Definition
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
  • Waardenburg syndrome type I
  • WS1
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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