Torsion Dystonia 6

Preferred Label : Torsion Dystonia 6;

NCIt synonyms : DYT6;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common.;

Détails

Origin ID

C156361;

UMLS CUI

C1414216;

Currated CISMeF NLP mapping
- Dystonia 6 (disorder) [SNOMED CT concept]
- Dystonia 6, torsion [OMIM Phenotype]
- Primary dystonia, DYT6 type [ORDO Disease]
- dystonia 6, torsion [MeSH concept]
- dystonia 6, torsion [MeSH Supplementary Concept]
- torsion dystonia 6 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 6 (disorder) [SNOMED CT concept]
- Dystonia 6, torsion [OMIM Phenotype]
- Primary dystonia, DYT6 type [ORDO Disease]
- dystonia 6, torsion [MeSH concept]
- dystonia 6, torsion [MeSH Supplementary Concept]
- torsion dystonia 6 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- THAP1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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