{
    "disease_id": "DOID:0050998", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013886", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013886", 
            "name": "nonprogressive cerebellar atxia with mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013886", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013886", 
            "name": "cerebellar ataxia, nonprogressive, with mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013886", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013886", 
            "name": "cerebellar ataxia, nonprogressive, with mental retardation; CANPMR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013886", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013886", 
            "name": "CANPMR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013886", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013886", 
            "name": "non-progressive cerebellar ataxia with intellectual disability"
        }, 
        {
            "url": "https://www.omim.org/entry/614756", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614756", 
            "name": "Cerebellar ataxia, non-progressive, with mental retardation"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050998", 
        "description": "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050998", 
        "name": "nonprogressive cerebellar ataxia with mental retardation"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614756", 
            "id": "614756", 
            "database": "MIM"
        }
    ]
}
