{
    "disease_id": "DOID:0111618",
    "recommended_name": {
        "id": "DOID:0111618",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111618",
            "name": "ARCA1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "Autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "SCAR8",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "autosomal recessive ataxia, Beauce type",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "SYNE1-related autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://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": "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations."
        },
        {
            "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": "SCAR8",
            "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": "spinocerebellar ataxia, autosomal recessive type 8",
            "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 ataxia Beauce type",
            "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": "recessive ataxia of Beauce",
            "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": "spinocerebellar ataxia, autosomal recessive 8",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111618"
    ],
    "unlinked_id_list": []
}