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DO Term : autosomal recessive spinocerebellar ataxia 34 [DOID:0070558] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.
  • synonyms:
  • CAMRQ3,
  • SCAR34,
  • UMLS_CUI:C2750509,
  • cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3,
  • spinocerebellar ataxia, autosomal recessive 34,
  • MESH:C567690,
  • CAMRQ syndrome 3,
  • OMIM:613227,
  • cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3,
  • cerebellar ataxia, mental retardation, and disequilibrium syndrome 3,
  • 613227
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