{
    "disease_id": "DOID:0050954",
    "recommended_name": {
        "id": "DOID:0050954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050954",
        "name": "spinocerebellar ataxia 1",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia type 1",
            "description": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "ATXN1 autosomal dominant cerebellar ataxia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "SCA1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "Sca1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "OPCA1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "OPCA4",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia 1",
            "description": ""
        },
        {
            "id": "MIM:164400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164400",
            "name": "Spinocerebellar ataxia 1",
            "description": "Spinocerebellar ataxia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050954"
    ],
    "unlinked_id_list": []
}