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Summary Literature (0)
DOID:0110956 - Waardenburg syndrome type 2E


Disease 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.

Synonyms: WS2E; WS2E with or without neurological involvement; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation

Referenced OMIM:
OMIM:611584 - WAARDENBURG SYNDROME, TYPE 2E; WS2E

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sox10

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Waardenburg's syndrome (is_a)


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