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Summary Literature (0)
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

Referenced OMIM:
OMIM:148820 - WAARDENBURG SYNDROME, TYPE 3; WS3

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pax3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Waardenburg's syndrome (is_a)


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