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 39 ID (Ontology) DOID:0110790 (Human Disease)
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
Also Known As "autosomal recessive spastic paraplegia 39" ; "autosomal recessive spastic paraplegia type 39" ; "NTE-related motor neuron disorder" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 hereditary spastic paraplegia 39       1      1
 for disease ribbon | hereditary spastic paraplegia 39       1       --
 model of | hereditary spastic paraplegia 39       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 39  2 rec.
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Is a autosomal recessive disease
hereditary spastic paraplegia
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Synonyms
  • "autosomal recessive spastic paraplegia 39" EXACT
    "autosomal recessive spastic paraplegia type 39" EXACT
    "NTE-related motor neuron disorder" EXACT
    "NTEMND" EXACT OMO:0003012
    "spastic paraplegia due to neuropathy target esterase mutation" EXACT
    "spastic paraplegia due to NTE mutation" EXACT
    "SPG39" EXACT OMO:0003012
Secondary IDs
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GARD:4924
ICD10CM:G11.4
MIM:612020
ORDO:139480