Waardenburg Syndrome Type 4

Preferred Label : Waardenburg Syndrome Type 4;

NCIt synonyms : Waardenburg-Shah Syndrome; Waardenburg Syndrome Type IV;

NCIt definition : A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.;

Details

Origin ID

C124842;

UMLS CUI

C1848519;

Currated CISMeF NLP mapping
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4 [MeSH concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg-Shah syndrome [ORDO Disease]
- Waardenburg-Shah syndrome [ICD-11 Subcategory]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4 [MeSH concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg-Shah syndrome [ORDO Disease]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Waardenburg's syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- EDN3 Gene [NCIt concept]
- EDNRB Gene [NCIt concept]
- SOX10 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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