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About: autosomal recessive spinocerebellar ataxia 8     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • autosomal recessive spinocerebellar ataxia 8
described by
id
  • DOID:0111618
database_cross_reference
  • GARD:12234
  • MESH:C565188
  • OMIM:610743
  • ORDO:88644
  • UMLS_CUI:C1853116
has_exact_synonym
  • ARCA1 (en)
  • Autosomal recessive cerebellar ataxia type 1 (en)
  • SCAR8 (en)
  • autosomal recessive ataxia, Beauce type (en)
  • SYNE1-related autosomal recessive cerebellar ataxia (en)
  • recessive ataxia of Beauce (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.
is topic of
is annotatedSource of
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