{
    "disease_id": "DOID:0080288", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033481", 
            "name": "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033481", 
            "name": "spinocerebellar ataxia 46; SCA46"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033481", 
            "name": "SCA46"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080288", 
        "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080288", 
        "name": "spinocerebellar ataxia 46"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080288#disease-associations", 
            "id": "0080288", 
            "database": "Alliance of Genome Resources"
        }
    ]
}