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 6 ID (Ontology) DOID:0111617 (Human Disease)
Definition An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
Also Known As "autosomal recessive spinocerebellar ataxia type 6" ; "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" ; "SCAR6"
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__autosomal recessive spinocerebellar ataxia 6
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Is a autosomal recessive cerebellar ataxia
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Synonyms
  • "autosomal recessive spinocerebellar ataxia type 6" EXACT
    "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" EXACT
    "SCAR6" EXACT OMO:0003012
Secondary IDs
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GARD:4954
MESH:C537312
MIM:608029
ORDO:284332
SNOMEDCT_US_2023_03_01:785300001
UMLS_CUI:C1842676