Spinocerebellar Ataxia Type 31

Preferred Label : Spinocerebellar Ataxia Type 31;

NCIt synonyms : SCA31;

NCIt definition : An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the BEAN1 gene, encoding protein BEAN1.;

Details

Origin ID

C176901;

UMLS CUI

C1861736;

Automatic exact mappings (from CISMeF team)
- thymidine kinase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 31 [OMIM Phenotype]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 [ORDO Disease]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [MeSH Supplementary Concept]
- spinocerebellar ataxia 31 [MeSH concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
- spinocerebellar ataxia type 31 [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 31 [OMIM Phenotype]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [MeSH Supplementary Concept]
- spinocerebellar ataxia 31 [MeSH concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- BEAN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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