Waardenburg Syndrome Type 2A

Preferred Label : Waardenburg Syndrome Type 2A;

NCIt synonyms : Waardenburg Syndrome Type IIA;

NCIt definition : Waardenburg syndrome Type 2 caused by mutations in the MITF gene.;

Details

Origin ID

C75011;

UMLS CUI

C1860339;

Currated CISMeF NLP mapping
- Waardenburg syndrome type 2A [DO Concept]
- Waardenburg syndrome type 2A [MeSH concept]
- Waardenburg syndrome, type 2a [OMIM Phenotype]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 2A [MeSH concept]
- Waardenburg syndrome type 2A [DO Concept]
- Waardenburg syndrome, type 2a [OMIM Phenotype]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Waardenburg syndrome [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MITF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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