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 30 ID (Ontology) DOID:0110781 (Human Disease)
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
Also Known As "autosomal spastic paraplegia type 30" ; "SPG30"
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Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 hereditary spastic paraplegia 30       1
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monogenic disease
 |__autosomal genetic disease______
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 30  2 rec.
                                    |__hereditary spastic paraplegia 30A 1 rec.
                                    |__hereditary spastic paraplegia 30B 1 rec.
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Is a autosomal genetic disease
hereditary spastic paraplegia
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Synonyms
  • "autosomal spastic paraplegia type 30" EXACT
    "SPG30" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G11.4
ORDO:101010