Waardenburg syndrome type 3

Preferred Label : Waardenburg syndrome type 3;

ICD-11 definition : This type is caused by mutations in PAX3 and is phenotypically similar to type 1 with the additional feature of limb abnormalities.;

Details

Origin ID

847608197;

Currated CISMeF NLP mapping
- Waardenburg syndrome type 3 [ORDO Disease]
- Waardenburg syndrome type 3 [DO Concept]
- Waardenburg syndrome type 3 (disorder) [Inactive SNOMED CT concept]
- Waardenburg syndrome, type 3 [OMIM Phenotype]
- waardenburg syndrome [MeSH Descriptor]

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