{
    "disease_id": "DOID:0110997", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014928", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014928", 
            "name": "Joubert syndrome caused by mutation in MKS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014928", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014928", 
            "name": "JBTS28"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014928", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014928", 
            "name": "Joubert syndrome 28; JBTS28"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014928", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014928", 
            "name": "Joubert syndrome type 28"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014928", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014928", 
            "name": "MKS1 Joubert syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110997", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110997", 
            "name": "JBTS28"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110997", 
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110997", 
        "name": "Joubert syndrome 28"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617121", 
            "id": "617121", 
            "database": "MIM"
        }
    ]
}