{
    "disease_id": "DOID:0110763",
    "recommended_name": {
        "id": "DOID:0110763",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110763",
        "name": "hereditary spastic paraplegia 10",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110763",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110763",
            "name": "SPG10",
            "description": ""
        },
        {
            "id": "DOID:0110763",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110763",
            "name": "autosomal dominant spastic paraplegia 10",
            "description": ""
        },
        {
            "id": "DOID:0110763",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110763",
            "name": "autosomal dominant spastic paraplegia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "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."
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "spastic paraplegia 10, autosomal dominant; SPG10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "hereditary spastic paraplegia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "SPG10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "spastic paraplegia 10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "KIF5A hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "autosomal dominant spastic paraplegia 10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "autosomal dominant spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "autosomal dominant spastic paraplegia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "hereditary spastic paraplegia caused by mutation in KIF5A",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "spastic paraplegia 10 with or without peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011408",
            "name": "spastic paraplegia 10, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:604187",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604187",
            "name": "Spastic paraplegia 10, autosomal dominant",
            "description": "Spastic paraplegia 10, autosomal dominant"
        }
    ]
}