FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ID (Ontology) DOID:0081364 (Human Disease)
Definition A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.
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Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset       2      1      1
 for disease ribbon | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset       --       1       --
 model of | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset       2      1       --
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  central nervous system disease
   |__neurodegenerative disease
       |__neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset  4 rec.
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MIM:617145