{
    "disease_id": "DOID:0111745",
    "recommended_name": {
        "id": "DOID:0111745",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111745",
        "name": "cerebellar ataxia type 43",
        "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111745",
            "name": "SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43",
            "description": "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor."
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "MME autosomal dominant cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "autosomal dominant cerebellar ataxia caused by mutation in MME",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia 43; SCA43",
            "description": ""
        },
        {
            "id": "MONDO:0014867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014867",
            "name": "spinocerebellar ataxia type 43",
            "description": ""
        },
        {
            "id": "MIM:617018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617018",
            "name": "Spinocerebellar ataxia 43",
            "description": "Spinocerebellar ataxia 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111745"
    ],
    "unlinked_id_list": []
}