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Metadata
ID DOID:0110948
Name Waardenburg syndrome type 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/1347148, https://www.ncbi.nlm.nih.gov/pubmed/20127975
Xrefs

MESH:D014849

MIM:193500

NCI:C75008

ORDO:894

SNOMEDCT_US_2023_03_01:1010606009

UMLS_CUI:C1847800

Subsets

DO_rare_slim

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Synonyms

Waardenburg syndrome type I [EXACT]

WS1 [EXACT]

Parent Relationships

is_a Waardenburg syndrome

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