Waardenburg syndrome type 1

Term ID

DOID:0110948

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. (2)

References

• MESH:D014849
• MIM:193500
• NCI:C75008
• ORDO:894
• SNOMEDCT_US_2023_03_01:1010606009
• UMLS_CUI:C1847800

Ontology

Human Disease   ( DOID:0110948 )