{
    "disease_id": "DOID:0110792",
    "recommended_name": {
        "id": "DOID:0110792",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110792",
        "name": "hereditary spastic paraplegia 4",
        "description": "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "SPG4",
            "description": ""
        },
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "autosomal dominant spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "autosomal dominant spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia 4",
            "description": "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "SPAST hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "SPG4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "autosomal dominant spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia caused by mutation in SPAST",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "FSP2",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "familial spastic paraplegia autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "spastic paraplegia 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:182601",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182601",
            "name": "Spastic paraplegia 4, autosomal dominant",
            "description": "Spastic paraplegia 4, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110792"
    ],
    "unlinked_id_list": []
}