Dystonia 23 - CISMeF

Preferred Label : Dystonia 23;

Symbol : DYT23;

CISMeF acronym : DYT23;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-dependent calcium channel, N type, alpha-1B subunit gene (CACNA1B, 601012.0001);

Prefixed ID : %614860;

Details

Origin ID

614860;

UMLS CUI

C3538999;

Automatic exact mappings (from CISMeF team)
- ANO3 wt Allele [NCIt concept]
- anoctamin 3 [ORDO Gene]
- anoctamin 3 [HGNC gene]
Currated CISMeF NLP mapping
- Adult-onset cervical dystonia DYT23 type (disorder) [SNOMED CT concept]
- Adult-onset cervical dystonia, DYT23 type [ORDO Disease]
- dystonia 23 [DO Concept]
DO Cross reference
- dystonia 23 [DO Concept]
HPO term(s)
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial dystonia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dysphonia [HPO term]
- Gait disturbance [HPO term]
- Head tremor [HPO term]
- Limb dystonia [HPO term]
- Myoclonus [HPO term]
- Progressive [HPO term]
- Torticollis [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Adult-onset cervical dystonia, DYT23 type [ORDO Disease]
- Cervical dystonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset cervical dystonia DYT23 type (disorder) [SNOMED CT concept]
- dystonia 23 [DO Concept]

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