{
    "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; see this term). 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 12",
            "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; SCA12",
            "description": ""
        },
        {
            "id": "MIM:604326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604326",
            "name": "Spinocerebellar ataxia 12",
            "description": "Spinocerebellar ataxia 12"
        }
    ]
}