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 9A ID (Ontology) DOID:0110824 (Human Disease)
Definition A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Also Known As "AD-SPG9A" ; "autosomal dominant complex spastic paraplegia type 9A" ; "autosomal dominant spastic paraplegia 9A" (for all, see Synonyms field below)
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 Genes
 hereditary spastic paraplegia 9A       1
 for disease ribbon | hereditary spastic paraplegia 9A       1
 model of | hereditary spastic paraplegia 9A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
paraplegia                         |
 |__hereditary spastic paraplegia__|
                                   hereditary spastic paraplegia 9A  1 rec.
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Is a autosomal dominant disease
hereditary spastic paraplegia
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Synonyms
  • "AD-SPG9A" EXACT OMO:0003012
    "autosomal dominant complex spastic paraplegia type 9A" EXACT
    "autosomal dominant spastic paraplegia 9A" EXACT
    "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT
    "cataracts with motor neuronopathy, short stature and skeletal abnormalities" EXACT
    "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux" EXACT
    "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT
    "SPG9A" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G11.4
MIM:601162
ORDO:100990
ORDO:447753