OBO ID: DOID:0110956
Term Name: Waardenburg syndrome type 2E Search Ontology:
Synonyms:
  • hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
  • Waardenburg syndrome type 2E with or without neurologic involvement
  • Waardenburg syndrome type IIE
  • WS2E
  • WS2E with or without neurological involvement
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 heterozygous mutations in the SOX10 gene on chromosome 22q13. (2)
References:
Ontology: Human Disease   (DOID:0110956)
OTHER Waardenburg syndrome type 2E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement 611584
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None