|OBO ID: DOID:0110956|
|Term Name:||Waardenburg syndrome type 2E||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0110956)|
|is a type of:||
OTHER Waardenburg syndrome type 2E PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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