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