{
    "disease_id": "DOID:0050755",
    "recommended_name": {
        "id": "DOID:0050755",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050755",
        "name": "ataxia with oculomotor apraxia type 2",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "spinocerebellar ataxia, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "spinocerebellar ataxia, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "spinocerebellar ataxia, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "ataxia-oculomotor apraxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "AOA2",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "ataxia-ocular apraxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "SCAR1",
            "description": ""
        },
        {
            "id": "MONDO:0011623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011623",
            "name": "spinocerebellar ataxia, autosomal recessive 1; SCAR1",
            "description": ""
        },
        {
            "id": "MIM:606002",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606002",
            "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
            "description": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"
        }
    ]
}