{
    "disease_id": "DOID:0110811",
    "recommended_name": {
        "id": "DOID:0110811",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110811",
        "name": "hereditary spastic paraplegia 6",
        "description": "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "FSP3",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "SPG6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant spastic paraplegia 6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant familial spastic paraplegia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia 6",
            "description": "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment."
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "FSP3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "NIPA1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "SPG6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "autosomal dominant spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia caused by mutation in NIPA1",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "familial spastic paraplegia autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "spastic paraplegia 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "spastic paraplegia 6, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:600363",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600363",
            "name": "Spastic paraplegia 6, autosomal dominant",
            "description": "Spastic paraplegia 6, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110811"
    ],
    "unlinked_id_list": []
}