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 43 ID (Ontology) DOID:0111745 (Human Disease)
Definition An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
Also Known As "SCA43"
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 Genes
 cerebellar ataxia type 43      14
 for disease ribbon | cerebellar ataxia type 43      14
 model of | cerebellar ataxia type 43      14
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__cerebellar ataxia type 43  14 rec.
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Is a autosomal dominant cerebellar ataxia
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Synonyms
  • "SCA43" EXACT OMO:0003012
Secondary IDs
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MIM:617018
ORDO:497764