Terminology Service for NFDI4Health
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Waardenburg Syndrome Type 1

Go to external page http://purl.obolibrary.org/obo/NCIT_C75008

A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by 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 Type 1

Synonyms
  • Waardenburg Syndrome Type 1
  • Waardenburg Syndrome Type I
Legacy Concept Name

Waardenburg_Syndrome_Type_1

Preferred Name

Waardenburg Syndrome Type 1

Semantic Type

Disease or Syndrome

UMLS CUI

C1847800

code

C75008

Term relations