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Disease Ontology Browser
Waardenburg syndrome type 3 (DOID:0110949)
Alliance: disease page
Synonyms: Klein-Waardenburg syndrome; Waardenburg syndrome type III; Waardenburg syndrome with upper limb anomalies; WS3
Alt IDs: OMIM:148820, ICD10CM:E70.3, ORDO:896
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/26/2022
MGI 6.22
The Jackson Laboratory