spinocerebellar ataxia 12

Preferred Label : spinocerebellar ataxia 12;

MeSH note : due to expansion of a CAG repeat in a brain-specific regulatory subunit of the protein phosphatase PP2A;

MeSH synonym : SCA12 Spinocerebellar Ataxia 12;

Details

Origin ID

C565790;

UMLS CUI

C1858501;

CISMeF manual mappings
- Spinocerebellar ataxia type 12 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 12 [NCIt concept]
- Spinocerebellar ataxia 12 [OMIM Phenotype]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 [ORDO Disease]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia type 12 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- spinocerebellar ataxia 12 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 12 [NCIt concept]
- Spinocerebellar ataxia 12 [OMIM Phenotype]
- Spinocerebellar ataxia type 12 [ORDO Disease]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia type 12 [DO Concept]

Keyword's position in hierarchy(ies) :

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