{
    "disease_id": "DOID:0110818",
    "recommended_name": {
        "id": "DOID:0110818",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110818",
        "name": "hereditary spastic paraplegia 73",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110818",
            "name": "SPG73",
            "description": ""
        },
        {
            "id": "DOID:0110818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110818",
            "name": "autosomal dominant spastic paraplegia 73",
            "description": ""
        },
        {
            "id": "DOID:0110818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110818",
            "name": "autosomal dominant spastic paraplegia type 73",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "hereditary spastic paraplegia 73",
            "description": "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies."
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "CPT1C autosomal dominant pure spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "SPG73",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "autosomal dominant spastic paraplegia type 73",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "hereditary spastic paraplegia type 73",
            "description": ""
        },
        {
            "id": "MONDO:0014568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014568",
            "name": "spastic paraplegia 73, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:616282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616282",
            "name": "Spastic paraplegia 73, autosomal dominant",
            "description": "Spastic paraplegia 73, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110818"
    ],
    "unlinked_id_list": []
}