Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0110950 - Waardenburg syndrome type 2A

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 mutation in the MITF gene on chromosome 3p13.

Synonyms: Waardenburg syndrome type IIA, WS2A

Xenbase Genes : mitf

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008671 - Waardenburg syndrome type 2A

MIM:
MIM:193510 - WAARDENBURG SYNDROME, TYPE 2A; WS2A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): digenic disease (is_a), Waardenburg syndrome (is_a)