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Summary Literature (0)
DOID:0110948 - Waardenburg syndrome type 1


Disease Ontology Definition:A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.

Synonyms: WS1, Waardenburg syndrome type I

Xenbase Genes : pax3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008670 - Waardenburg syndrome type 1

OMIM:
OMIM:193500 - WAARDENBURG SYNDROME, TYPE 1; WS1

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)