{
    "disease_id": "DOID:0110986", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013824", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013824", 
            "name": "Joubert syndrome caused by mutation in CPLANE1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013824", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013824", 
            "name": "JBTS17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013824", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013824", 
            "name": "CPLANE1 Joubert syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013824", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013824", 
            "name": "Joubert syndrome 17; JBTS17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013824", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013824", 
            "name": "Joubert syndrome type 17"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110986", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110986", 
            "name": "JBTS17"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110986", 
        "description": "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome  5p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110986", 
        "name": "Joubert syndrome 17"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110986#disease-associations", 
            "id": "0110986", 
            "database": "Alliance of Genome Resources"
        }
    ]
}