Autosomal Dominant Torsion Dystonia 1

Preferred Label : Autosomal Dominant Torsion Dystonia 1;

NCIt synonyms : DYT1;

NCIt definition : An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.;

Details

Origin ID

C118780;

UMLS CUI

C1851945;

Automatic exact mappings (from CISMeF team)
- torsin family 1 member A [ORDO Gene]
Currated CISMeF NLP mapping
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
- dystonia musculorum deformans type 1 [MeSH Supplementary 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 1, torsion, autosomal dominant [OMIM Phenotype]
- Dystonia musculorum deformans type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Early-onset generalized limb-onset dystonia [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TOR1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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