FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive spinocerebellar ataxia 34 ID (Ontology) DOID:0070558 (Human Disease)
Definition An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.
Also Known As "CAMRQ syndrome 3" ; "CAMRQ3" ; "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" (for all, see Synonyms field below)
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 Genes
 autosomal recessive spinocerebellar ataxia 34       7
 for disease ribbon | autosomal recessive spinocerebellar ataxia 34       7
 model of | autosomal recessive spinocerebellar ataxia 34       7
Spanning Tree (Parents/Children)
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__autosomal recessive spinocerebellar ataxia 34  7 rec.
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Is a autosomal recessive cerebellar ataxia
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Synonyms
  • "CAMRQ syndrome 3" EXACT
    "CAMRQ3" EXACT OMO:0003012
    "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" EXACT
    "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3" EXACT
    "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" EXACT
    "SCAR34" EXACT OMO:0003012
    "spinocerebellar ataxia, autosomal recessive 34" EXACT
Secondary IDs
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MESH:C567690
MIM:613227
UMLS_CUI:C2750509