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Disease Ontology Browser
Waardenburg syndrome type 1 (DOID:0110948)
Alliance: disease page
Synonyms: Waardenburg syndrome type I; WS1
Alt IDs: OMIM:193500, MESH:D014849, NCI:C75008, ORDO:894, UMLS_CUI:C1847800
Definition: A Waardenburg 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.

Disease References using Mouse Models (7)
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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory