Dystonia 2, torsion, autosomal recessive

Preferred Label : Dystonia 2, torsion, autosomal recessive;

Symbol : DYT2;

CISMeF acronym : DYT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystonia musculorum deformans 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hippocalcin gene (HPCA, 142622.0001);

Prefixed ID : #224500;

Details

Origin ID

224500;

UMLS CUI

C1857093;

Currated CISMeF NLP mapping
- Autosomal Recessive Torsion Dystonia 2 [NCIt concept]
- 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]
DO Cross reference
- torsion dystonia 2 [DO Concept]
Genes related to phenotype
- Hippocalcin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharospasm [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Juvenile onset [HPO term]
- Slowly progressive [HPO term]
- Torsion dystonia [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Primary dystonia, DYT2 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Torsion Dystonia 2 [NCIt concept]
- Dystonia musculorum deformans type 2 [MeSH concept]
- Primary dystonia type 2 (disorder) [SNOMED CT concept]
- dystonia musculorum deformans type 2 [MeSH Supplementary Concept]

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