OBO ID: DOID:0110950 |
Term Name: | Waardenburg syndrome type 2A | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0110950 ) |
OTHER Waardenburg syndrome type 2A PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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