OBO ID: DOID:0110950
Term Name: Waardenburg syndrome type 2A Search Ontology:
Synonyms:
  • Waardenburg syndrome type IIA
  • WS2A
Definition: A Waardenburg 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 mutation in the MITF gene on chromosome 3p13. (2)
References:
Ontology: Human Disease   ( DOID:0110950 )
Relationships
is a type of:
OTHER Waardenburg syndrome type 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MITF Waardenburg syndrome, type 2A 193510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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