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Summary Literature (2)
DOID:9258 - Waardenburg's syndrome


Disease Ontology Definition:A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.

Synonyms: Waardenburg Shah syndrome, Waardenburg syndrome, Waardenburg, types I and/or II, van der Hoeve Halbertsona Waardenburg syndrome

Xenbase Genes : sox10, pax3, mitf, snai2, ednrb, edn3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018094 - Waardenburg syndrome


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

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