{
    "disease_id": "DOID:0111618",
    "recommended_name": {
        "id": "DOID:0111618",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111618",
        "name": "autosomal recessive spinocerebellar ataxia 8",
        "description": "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "ARCA1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "Autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "SCAR8",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "autosomal recessive ataxia, Beauce type",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "SYNE1-related autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111618",
            "name": "recessive ataxia of Beauce",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive ataxia, Beauce type",
            "description": "gene mutations."
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "cerebellar ataxia, autosomal recessive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "SCAR8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "ataxia, recessive, of Beauce",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "SYNE1-related autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "ARCA1",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia, autosomal recessive 8; SCAR8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia, autosomal recessive type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive spinocerebellar ataxia 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive ataxia Beauce type",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "recessive ataxia of Beauce",
            "description": ""
        },
        {
            "id": "MIM:610743",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610743",
            "name": "Spinocerebellar ataxia, autosomal recessive, 8",
            "description": "Spinocerebellar ataxia, autosomal recessive, 8"
        }
    ]
}