{
    "disease_id": "DOID:0111002", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012694", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012694", 
            "name": "RPGRIP1L Joubert syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012694", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012694", 
            "name": "JBTS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012694", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012694", 
            "name": "Joubert syndrome type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012694", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012694", 
            "name": "Joubert syndrome caused by mutation in RPGRIP1L"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012694", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012694", 
            "name": "Joubert syndrome 7; JBTS7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111002", 
            "name": "JBTS7"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111002", 
        "description": "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111002", 
        "name": "Joubert syndrome 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111002#disease-associations", 
            "id": "0111002", 
            "database": "Alliance of Genome Resources"
        }
    ]
}