{
    "disease_id": "DOID:0110999",
    "recommended_name": {
        "id": "DOID:0110999",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110999",
        "name": "Joubert syndrome 4",
        "description": "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110999",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110999",
            "name": "JBTS4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome with renal defect",
            "description": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "JBTS4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "JS-R",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome with renal anomalies",
            "description": ""
        },
        {
            "id": "MIM:609583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609583",
            "name": "Joubert syndrome 4",
            "description": "Joubert syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110999"
    ],
    "unlinked_id_list": []
}