FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spinocerebellar ataxia type 2 ID (Ontology) DOID:0050955 (Human Disease)
Definition An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      15
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 spinocerebellar ataxia type 2      19      5      1
 ameliorates | spinocerebellar ataxia type 2       6       --       --
 exacerbates | spinocerebellar ataxia type 2       3       --       --
 for disease ribbon | spinocerebellar ataxia type 2       --       1       --
 model of | spinocerebellar ataxia type 2       6      1       --
 DOES NOT model | spinocerebellar ataxia type 2       4       --       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__spinocerebellar ataxia type 2  25 rec.
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Is a autosomal dominant cerebellar ataxia
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MIM:183090