{
    "disease_id": "DOID:0050755",
    "recommended_name": {
        "id": "DOID:0050755",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050755",
        "name": "spinocerebellar ataxia with axonal neuropathy 2",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal."
    },
    "synonyms": [
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "AOA2",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "SCAN2",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "SCAR1",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "ataxia with oculomotor apraxia type 2",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "autosomal recessive spinocerebellar ataxia 1",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "spinocerebellar ataxia with axonal neuropathy type 2",
            "description": ""
        },
        {
            "id": "DOID:0050755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050755",
            "name": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
            "description": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level."
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "AOA2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "SCAN 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "SCAN2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "ataxia with oculomotor apraxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "ataxia-ocular apraxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "ataxia-oculomotor apraxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "ataxia-oculomotor apraxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "spinocerebellar ataxia with axonal neuropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "spinocerebellar ataxia, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "spinocerebellar ataxia, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "SCAR1",
            "description": ""
        },
        {
            "id": "MONDO:0018996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018996",
            "name": "autosomal recessive spinocerebellar ataxia-1",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050755"
    ],
    "unlinked_id_list": []
}