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 82 ID (Ontology) DOID:0112343 (Human Disease)
Definition A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
Also Known As "spastic paraplegia 82 autosomal recessive" ; "SPG82"
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 Genes
 hereditary spastic paraplegia 82       1
 for disease ribbon | hereditary spastic paraplegia 82       1
 model of | hereditary spastic paraplegia 82       1
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autosomal genetic disease
 |__autosomal recessive disease____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 82  1 rec.
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Is a autosomal recessive disease
hereditary spastic paraplegia
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Synonyms
  • "spastic paraplegia 82 autosomal recessive" EXACT
    "SPG82" EXACT OMO:0003012
Secondary IDs
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MIM:618770