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DO Term : autosomal recessive spinocerebellar ataxia 8 [DOID:0111618] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • autosomal recessive ataxia, Beauce type,
  • SCAR8,
  • OMIM:610743,
  • UMLS_CUI:C1853116,
  • ARCA1,
  • ORDO:88644,
  • GARD:12234,
  • 610743,
  • Autosomal recessive cerebellar ataxia type 1,
  • SYNE1-related autosomal recessive cerebellar ataxia,
  • MESH:C565188,
  • recessive ataxia of Beauce
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Disease

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Ontology

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