{
    "disease_id": "DOID:0050962",
    "recommended_name": {
        "id": "DOID:0050962",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050962",
        "name": "spinocerebellar ataxia type 12",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia type 12",
            "description": "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported."
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "SCA12",
            "description": ""
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia 12",
            "description": ""
        },
        {
            "id": "MIM:604326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604326",
            "name": "Spinocerebellar ataxia 12",
            "description": "Spinocerebellar ataxia 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050962"
    ],
    "unlinked_id_list": []
}
