Dystonia 12 - CISMeF

Preferred Label : Dystonia 12;

Symbol : DYT12;

CISMeF acronym : DYT12; RDP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RDP; Dystonia-parkinsonism, rapid-onset;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the alpha-3 subunit of the Na /K -ATPase gene (ATP1A3, 182350.0001);

Prefixed ID : #128235;

Details

Origin ID

128235;

UMLS CUI

C1868681;

Automatic exact mappings (from CISMeF team)
- ATP1A3 wt Allele [NCIt concept]
- NELFE wt Allele [NCIt concept]
- generalized dystonia [DO Concept]
CISMeF manual mappings
- Rapid onset dystonia parkinsonism (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dystonia 12 [NCIt concept]
- Dystonia 12 [MeSH concept]
- Rapid-onset dystonia-parkinsonism [ICD-11 More detail]
- Rapid-onset dystonia-parkinsonism [MedDRA Preferred Term]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- dystonia 12 [DO Concept]
- dystonia 12 [MeSH Supplementary Concept]
- rapid onset dystonia parkinsonism [Disease (Nov.)]
DO Cross reference
- dystonia 12 [DO Concept]
False automatic mappings
- Proliferative Diabetic Retinopathy [NCIt concept]
- Proliferative retinopathy due to diabetes mellitus (disorder) [SNOMED CT concept]
- colorectal surgery [Artificial nutrition thesaurus concept]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-3 polypeptide [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Bulbar signs [HPO term]
- Childhood onset [HPO term]
- Depression [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Emotional lability [HPO term]
- Hypomimic face [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
- Mutism [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 12 [MeSH concept]
- Dystonia 12 [NCIt concept]
- Rapid onset dystonia parkinsonism (disorder) [SNOMED CT concept]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- Rapid-onset dystonia-parkinsonism [MedDRA Preferred Term]
- dystonia 12 [MeSH Supplementary Concept]
- dystonia 12 [DO Concept]
- rapid onset dystonia parkinsonism [Disease (Nov.)]

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