Search Ontology:
Human Disease

Waardenburg syndrome type 1

Term ID
DOID:0110948
Synonyms
  • Waardenburg syndrome type I
  • WS1
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. (2)
References
Ontology
Human Disease   ( DOID:0110948 )
Relationships
is a type of
inverse disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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