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.