Dystonia 16 - CISMeF

Preferred Label : Dystonia 16;

NCIt synonyms : DYT16;

NCIt definition : An extremely rare autosomal recessive dystonia-parkinsonism condition caused by mutation(s) in the PRKRA gene encoding interferon-inducible double-stranded RNA-dependent protein kinase activator A.;

Details

Origin ID

C168729;

UMLS CUI

C2677567;

Automatic exact mappings (from CISMeF team)
- protein activator of interferon induced protein kinase EIF2AK2 [ORDO Gene]
Currated CISMeF NLP mapping
- Dystonia 16 [OMIM Phenotype]
- Dystonia 16 [ORDO Disease]
- Dystonia 16 [ICD-11 More detail]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [DO Concept]
- dystonia 16 [MeSH concept]
- dystonia 16 [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 16 [ORDO Disease]
- Dystonia 16 [OMIM Phenotype]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [DO Concept]
- dystonia 16 [MeSH Supplementary Concept]
- dystonia 16 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PRKRA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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