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    {
        "title": "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).",
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        "date": "2002",
        "authors": "Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA",
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                                "name": "autosomal dominant spastic paraplegia 10",
                                "description": ""
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110763",
                                "name": "autosomal dominant spastic paraplegia type 10",
                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011408",
                                "name": "hereditary spastic paraplegia 10",
                                "description": "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011408",
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011408",
                                "name": "autosomal dominant spastic paraplegia",
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