Waardenburg syndrome type 2D

Summary

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 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

: snai2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012144 - Waardenburg syndrome type 2D

MONDO:0012144 - Waardenburg syndrome type 2D

OMIM:

OMIM:608890 - MOVED TO 193510

OMIM:608890 - MOVED TO 193510

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)