OBO ID: DOID:0110948
Term Name: Waardenburg syndrome type 1 Search Ontology:
Synonyms:
  • Waardenburg syndrome type I
  • WS1
Definition: A Waardenburg's 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)
OTHER Waardenburg syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX3 Waardenburg syndrome, type 1 193500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None