Autosomal Recessive Torsion Dystonia 2

Preferred Label : Autosomal Recessive Torsion Dystonia 2;

NCIt synonyms : Dystonia Musculorum Deformans 2; DYT2;

NCIt definition : An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions.;

Details

Origin ID

C123415;

UMLS CUI

C1857093;

Currated CISMeF NLP mapping
- Dystonia 2, torsion, autosomal recessive [OMIM Phenotype]
- Dystonia musculorum deformans type 2 [MeSH concept]
- Primary dystonia type 2 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT2 type [ORDO Disease]
- dystonia musculorum deformans type 2 [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Dystonia 2, torsion (autosomal recessive) [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 2, torsion, autosomal recessive [OMIM Phenotype]
- Dystonia musculorum deformans type 2 [MeSH concept]
- Primary dystonia type 2 (disorder) [SNOMED CT concept]
- dystonia musculorum deformans type 2 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- HPCA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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