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 50 ID (Ontology) DOID:0110802 (Human Disease)
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
Also Known As "adaptor protein complex 4 deficiency" ; "AP-4 deficiency syndrome" ; "AP-4-Associated Hereditary Spastic Paraplegia" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 50
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Is a autosomal recessive disease
hereditary spastic paraplegia
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Synonyms
  • "adaptor protein complex 4 deficiency" EXACT
    "AP-4 deficiency syndrome" EXACT
    "AP-4-Associated Hereditary Spastic Paraplegia" EXACT
    "autosomal recessive spastic paraplegia 50" EXACT
    "SPG50" EXACT OMO:0003012
Secondary IDs
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MIM:612936
ORDO:280763