About   Help   FAQ
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 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory