Visualize Submit Comment
Metadata
ID DOID:0110948
Name Waardenburg syndrome type 1
Definition A Waardenburg's 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.
https://www.ncbi.nlm.nih.gov/pubmed/1347148, https://www.ncbi.nlm.nih.gov/pubmed/20127975
Xrefs

MESH:D014849

NCI:C75008

OMIM:193500

ORDO:894

UMLS_CUI:C1847800

Subsets

NCIthesaurus

Synonyms

Waardenburg syndrome type I [EXACT]

WS1 [EXACT]

Parent Relationships

is_a Waardenburg's syndrome

Add an item to the term tracker