Search Ontology:
Human Disease

Waardenburg syndrome type 2A

Term ID
DOID:0110950
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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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