{
    "disease_id": "DOID:0080279", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033311", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033311", 
            "name": "Joubert syndrome 33; JBTS33"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033311", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033311", 
            "name": "JBTS33"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080279", 
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080279", 
        "name": "Joubert syndrome 33"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080279#disease-associations", 
            "id": "0080279", 
            "database": "Alliance of Genome Resources"
        }
    ]
}