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 17 ID (Ontology) DOID:0050967 (Human Disease)
Definition An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 spinocerebellar ataxia type 17       3      5      1
 for disease ribbon | spinocerebellar ataxia type 17       --       4       --
 model of | spinocerebellar ataxia type 17       3      4       --
Spanning Tree (Parents/Children)
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autosomal dominant disease
 |__autosomal dominant cerebellar ataxia__
cerebellar ataxia                         |
 |__autosomal dominant cerebellar ataxia__|
polygenic disease                         |
 |__digenic disease_______________________|
                                          spinocerebellar ataxia type 17  9 rec.
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Is a digenic disease
autosomal dominant cerebellar ataxia
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Synonyms
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GARD:10469
MIM:607136