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
|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)