Spinocerebellar ataxia 12

Preferred Label : Spinocerebellar ataxia 12;

Symbol : SCA12;

CISMeF acronym : SCA12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by expanded CAG trinucleotide repeats in the beta subunit of the protein phosphatase 2 gene (PPP2R2B, 604325.0001);

Prefixed ID : #604326;

Détails

Origin ID

604326;

UMLS CUI

C1858501;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
CISMeF manual mappings
- Spinocerebellar ataxia type 12 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 12 [NCIt concept]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 [ORDO Disease]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia 12 [MeSH concept]
- spinocerebellar ataxia 12 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 12 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 12 [DO Concept]
Genes related to phenotype
- Protein phosphatase 2, regulatory subunit b, beta [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Action tremor [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial dystonia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Facial myokymia [HPO term]
- Head tremor [HPO term]
- Hyperreflexia [HPO term]
- Parkinsonism [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Sensorimotor neuropathy [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 12 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 12 [NCIt concept]
- 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 [MeSH Supplementary Concept]
- spinocerebellar ataxia 12 [MeSH concept]
- spinocerebellar ataxia 12 [Disease (Nov.)]
- spinocerebellar ataxia type 12 [DO Concept]

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