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,

Echinobase Genes :


OMIM:

MIM:611584 - waardenburg syndrome, type 2e; ws2e

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee