Spinocerebellar Ataxia Type 2

Preferred Label : Spinocerebellar Ataxia Type 2;

NCIt synonyms : Olivopontocerebellar Atrophy 2; SCA2; OPCA2; Wadia-Swami Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ATXN2 gene, encoding ataxin-2. Specifically, the mutation is an expanded CAG trinucleotide repeat in the gene. It is a progressive cerebellar ataxia associated supranuclear ophthalmoplegia, mild dementia and peripheral neuropathy.;

Details

Origin ID

C148315;

UMLS CUI

C0752121;

Automatic exact mappings (from CISMeF team)
- olivopontocerebellar atrophy [DO Concept]
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 2 [OMIM Phenotype]
- Spinocerebellar ataxia type 2 [ORDO Disease]
- Spinocerebellar ataxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 2 [Disease (Nov.)]
- spinocerebellar ataxia type 2 [MeSH concept]
- spinocerebellar ataxia type 2 [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 2 [OMIM Phenotype]
- Spinocerebellar ataxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia type 2 [ORDO Disease]
- Spinocerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar degeneration with slow eye movements [OMIM Phenotype]
- spinocerebellar ataxia 2 [Disease (Nov.)]
- spinocerebellar ataxia type 2 [DO Concept]
- spinocerebellar ataxia type 2 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ATXN2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients