{
    "disease_id": "DOID:0112348",
    "recommended_name": {
        "id": "DOID:0112348",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112348",
        "name": "hereditary spastic paraplegia 78",
        "description": "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13."
    },
    "synonyms": [
        {
            "id": "DOID:0112348",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112348",
            "name": "SPG78",
            "description": ""
        },
        {
            "id": "DOID:0112348",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112348",
            "name": "spastic paraplegia 78 autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "autosomal recessive spastic paraplegia type 78",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene."
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "ATP13A2 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "SPG78",
            "description": ""
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "hereditary spastic paraplegia caused by mutation in ATP13A2",
            "description": ""
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "spastic paraplegia 78, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014975",
            "name": "spastic paraplegia 78, autosomal recessive; SPG78",
            "description": ""
        },
        {
            "id": "MIM:617225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617225",
            "name": "Spastic paraplegia 78, autosomal recessive",
            "description": "Spastic paraplegia 78, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112348"
    ],
    "unlinked_id_list": []
}
