FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hereditary spastic paraplegia 79A ID (Ontology) DOID:0070455 (Human Disease)
Definition A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13.
Also Known As "autosomal dominant spastic paraplegia 79A" ; "SPG79A"
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 Genes
 hereditary spastic paraplegia 79A       1
 for disease ribbon | hereditary spastic paraplegia 79A       1
 model of | hereditary spastic paraplegia 79A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 79A  1 rec.
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Is a autosomal dominant disease
hereditary spastic paraplegia
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Synonyms
  • "autosomal dominant spastic paraplegia 79A" EXACT
    "SPG79A" EXACT OMO:0003012
Secondary IDs
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MIM:620221