Waardenburg syndrome type 3

Summary

DOID:0110949 - Waardenburg syndrome type 3

Disease Ontology Definition:A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.

Synonyms: Klein-Waardenburg syndrome, WS3, Waardenburg syndrome type III, Waardenburg syndrome with upper limb anomalies,

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:0007862 - Waardenburg syndrome type 3

MONDO:0007862 - Waardenburg syndrome type 3

OMIM:

OMIM:148820 - WAARDENBURG SYNDROME, TYPE 3; WS3

OMIM:148820 - WAARDENBURG SYNDROME, TYPE 3; WS3

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)