FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebellar ataxia type 48 ID (Ontology) DOID:0111746 (Human Disease)
Definition An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3.
Also Known As "SCA48"
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 Genes
 cerebellar ataxia type 48       1
 for disease ribbon | cerebellar ataxia type 48       1
 model of | cerebellar ataxia type 48       1
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__cerebellar ataxia type 48  1 rec.
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Is a autosomal dominant cerebellar ataxia
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Synonyms
  • "SCA48" EXACT OMO:0003012
Secondary IDs
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MIM:618093