autosomal recessive cerebellar ataxia type 1

Preferred Label : autosomal recessive cerebellar ataxia type 1;

MeSH synonym : autosomal recessive spinocerebellar ataxia 8; recessive ataxia of beauce; Arca1;

Is substance : O;

Details

Origin ID

C579934;

UMLS CUI

C3683483;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
- SYNE1 wt Allele [NCIt concept]
- autosomal recessive spinocerebellar ataxia 8 [DO Concept]
- spectrin repeat containing nuclear envelope protein 1 [ORDO Gene]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
Record concept(s)
- autosomal recessive cerebellar ataxia type 1 [MeSH concept]
See also inter- (CISMeF)
- Spinocerebellar ataxia, autosomal recessive 8 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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