Waardenburg syndrome type 1

Summary

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 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

: pax3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008670 - Waardenburg syndrome type 1

MONDO:0008670 - Waardenburg syndrome type 1

OMIM:

OMIM:193500 - WAARDENBURG SYNDROME, TYPE 1; WS1

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)