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Echinobase
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,

Echinobase Genes : snai2


OMIM:
MIM: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 syndrome (is_a)