{
    "disease_id": "DOID:0080064",
    "recommended_name": {
        "id": "DOID:0080064",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080064",
        "name": "autosomal recessive spinocerebellar ataxia 17",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive spinocerebellar ataxia 17",
            "description": "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene."
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia autosomal recessive type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia, autosomal recessive type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia, autosomal recessive 17; SCAR17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "SCAR17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive spinocerebellar ataxia type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "CWF19L1 autosomal recessive congenital cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia, autosomal recessive 17",
            "description": ""
        },
        {
            "id": "MIM:616127",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616127",
            "name": "Spinocerebellar ataxia, autosomal recessive, 17",
            "description": "Spinocerebellar ataxia, autosomal recessive, 17"
        }
    ]
}