OBO ID: DOID:0110956 |
Term Name: | Waardenburg syndrome type 2E | 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 mutations in the SOX10 gene on chromosome 22q13. (2) | ||
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Ontology: | Human Disease ( DOID:0110956 ) |
OTHER Waardenburg syndrome type 2E PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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