OBO ID: DOID:0110949
Term Name: Waardenburg syndrome type 3 Search Ontology:
Synonyms:
  • Klein-Waardenburg syndrome
  • Waardenburg syndrome type III
  • Waardenburg syndrome with upper limb anomalies
  • WS3
Definition: A Waardenburg's 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 Waardenburg syndrome type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX3 Waardenburg syndrome, type 3 148820
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None