Terminology Service for NFDI4Health
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Waardenburg Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C85222

A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. [ ]

Term info

Label

Waardenburg Syndrome

Synonyms
  • Waardenburg Syndrome
  • Waardenburg's Syndrome
Subsets

NCIT_C90259, NCIT_C99147

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

NICHD Hierarchy Term

Waardenburg Syndrome

Preferred Name

Waardenburg Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C3266898

code

C85222