Waardenburg syndrome type 1

Preferred Label : Waardenburg syndrome type 1;

ICD-11 definition : This type is due to mutations in PAX3 gene and has the additional phenotype characteristic of dystopia canthorum.;

Details

Origin ID

547536187;

Automatic exact mappings (from CISMeF team)
- waardenburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Waardenburg Syndrome Type 1 [NCIt concept]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- Waardenburg syndrome, type 1 [OMIM Phenotype]
- waardenburg syndrome type 1 [MeSH concept]

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