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 78 ID (Ontology) DOID:0112348 (Human Disease)
Definition A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
Also Known As "spastic paraplegia 78 autosomal recessive" ; "SPG78"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 hereditary spastic paraplegia 78       1      1
 for disease ribbon | hereditary spastic paraplegia 78       1       --
 model of | hereditary spastic paraplegia 78       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 78  2 rec.
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Is a autosomal recessive disease
hereditary spastic paraplegia
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Synonyms
  • "spastic paraplegia 78 autosomal recessive" EXACT
    "SPG78" EXACT OMO:0003012
Secondary IDs
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MIM:617225
ORDO:513436