Term Name: | Waardenburg syndrome type 1 |
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Synonyms: | Waardenburg syndrome type I, WS1 |
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. |
Ontology: | Human Disease [DOID:0110948] ( DOID:0110948 ) |