Terminology Service for NFDI4Health
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Waardenburg Syndrome Type 2

Go to external page http://purl.obolibrary.org/obo/NCIT_C75009

A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum. [ ]

Term info

Label

Waardenburg Syndrome Type 2

Synonyms
  • Waardenburg Syndrome Type 2
  • Waardenburg Syndrome Type II
Legacy Concept Name

Waardenburg_Syndrome_Type_2

Preferred Name

Waardenburg Syndrome Type 2

Semantic Type

Disease or Syndrome

UMLS CUI

C2700265

code

C75009

Term relations

Subclass of: