Waardenburg syndrome type 2E

Summary

DOID:0110956 - Waardenburg syndrome type 2E

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sox10

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012698 - Waardenburg syndrome type 2E

MONDO:0012698 - Waardenburg syndrome type 2E

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

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

Parent(s): Waardenburg syndrome (is_a)