OBO ID: DOID:0110952
Term Name: Waardenburg syndrome type 2D Search Ontology:
Synonyms:
  • Waardenburg syndrome type IID
  • WS2D
Definition: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. (2)
References:
Ontology: Human Disease   (DOID:0110952)
Relationships
is a type of:
OTHER Waardenburg syndrome type 2D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SNAI2 Waardenburg syndrome, type 2D 608890
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None