{
    "disease_id": "DOID:0080279",
    "recommended_name": {
        "id": "DOID:0080279",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080279",
        "name": "Joubert syndrome 33",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "Joubert syndrome 33",
            "description": ""
        },
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "Joubert syndrome 33",
            "description": ""
        },
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "JBTS33",
            "description": ""
        },
        {
            "id": "MIM:617767",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617767",
            "name": "Joubert syndrome 33",
            "description": "Joubert syndrome 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080279"
    ],
    "unlinked_id_list": []
}