Waardenburg Syndrome

Preferred Label : Waardenburg Syndrome;

NCIt related terms : Waardenburg's Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.;

Details

Origin ID

C85222;

UMLS CUI

C3266898;

Automatic exact mappings (from CISMeF team)
- Waardenburg syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Waardenburg syndrome [Disease (Nov.)]
- Waardenburg syndrome [ICD-11 More detail]
- Waardenburg syndrome [MedDRA Preferred Term]
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome (disorder) [SNOMED CT concept]
- Waardenburg's syndrome [DO Concept]
- waardenburg syndrome [MeSH Descriptor]
- waardenburg syndrome [MeSH concept]
- waardenburg syndrome, type 2C [MeSH Supplementary Concept]
- waardenburg's syndrome [SNOMED Notion]
DO Cross reference
- Waardenburg's syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome [MedDRA Preferred Term]
- Waardenburg syndrome [Disease (Nov.)]
- Waardenburg syndrome (disorder) [SNOMED CT concept]
- waardenburg syndrome [MeSH concept]
- waardenburg syndrome [MeSH Descriptor]
- waardenburg's syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- SNAI2 Gene [NCIt concept]
- SNAI2 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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