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Summary Literature (0)
DOID:0110952 - Waardenburg syndrome type 2D


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 homozygous deletion of the SNAI2 gene on chromosome 8q11.

Synonyms: WS2D, Waardenburg syndrome type IID

Xenbase Genes : snai2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012144 - Waardenburg syndrome type 2D

OMIM:
OMIM:608890 - WAARDENBURG SYNDROME, TYPE 2D; WS2D

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

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