Dystonia 27 - CISMeF

Preferred Label : Dystonia 27;

Symbol : DYT27;

CISMeF acronym : DYT27;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen, type VI, alpha-3 gene (COL6A3, 120250.0007);

Prefixed ID : #616411;

Details

Origin ID

616411;

UMLS CUI

C4225336;

Currated CISMeF NLP mapping
- Primary dystonia type 27 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT27 type [ORDO Disease]
- dystonia 27 [DO Concept]
DO Cross reference
- dystonia 27 [DO Concept]
Genes related to phenotype
- Collagen, type VI, alpha-3 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Laryngeal dystonia [HPO term]
- Oromandibular dystonia [HPO term]
- Postural tremor [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Primary dystonia, DYT27 type [ORDO Disease]
See also inter- (CISMeF)
- COL6A3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary dystonia type 27 (disorder) [SNOMED CT concept]

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