{
    "disease_id": "DOID:0050985",
    "recommended_name": {
        "id": "DOID:0050985",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050985",
        "name": "spinocerebellar ataxia type 38",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia type 38",
            "description": "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy."
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "SCA38",
            "description": ""
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia 38",
            "description": ""
        },
        {
            "id": "MIM:615957",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615957",
            "name": "Spinocerebellar ataxia 38",
            "description": "Spinocerebellar ataxia 38"
        }
    ]
}