Waardenburg syndrome type 2

Preferred Label : Waardenburg syndrome type 2;

ICD-11 definition : This type resembles type 1 except that dystopia canthorum is absent. It is caused by mutations in MITF/SNAI2 genes.;

Details

Origin ID

746815303;

Currated CISMeF NLP mapping
- Waardenburg Syndrome Type 2 [NCIt concept]
- Waardenburg syndrome type 2 [ORDO Disease]
- Waardenburg syndrome type 2 [MeSH concept]
- Waardenburg syndrome type 2 [Disease (Nov.)]
- Waardenburg syndrome type 2 (disorder) [SNOMED CT concept]
- waardenburg syndrome type 2 [MeSH Supplementary Concept]

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