Spinocerebellar Ataxia Type 12

Preferred Label : Spinocerebellar Ataxia Type 12;

NCIt synonyms : SCA12;

NCIt definition : An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.;

Details

Origin ID

C154316;

UMLS CUI

C1858501;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 12 [OMIM Phenotype]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 [ORDO Disease]
- Spinocerebellar ataxia type 12 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 12 [MeSH Supplementary Concept]
- spinocerebellar ataxia 12 [MeSH concept]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia type 12 [DO 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)
- Spinocerebellar ataxia 12 [OMIM Phenotype]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 [ORDO Disease]
- Spinocerebellar ataxia type 12 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 12 [MeSH concept]
- spinocerebellar ataxia 12 [MeSH Supplementary Concept]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia type 12 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PPP2R2B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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