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 40 ID (Ontology) DOID:0050986 (Human Disease)
Definition An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
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 spinocerebellar ataxia type 40       1
 for disease ribbon | spinocerebellar ataxia type 40       1
 model of | spinocerebellar ataxia type 40       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__spinocerebellar ataxia type 40  1 rec.
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Is a autosomal dominant cerebellar ataxia
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MIM:616053