Search Ontology:
Human Disease

Waardenburg syndrome type 3

Term ID
DOID:0110949
Synonyms
  • Klein-Waardenburg syndrome
  • Waardenburg syndrome type III
  • Waardenburg syndrome with upper limb anomalies
  • WS3
Definition
A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (2)
References
Ontology
Human Disease   ( DOID:0110949 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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