{
    "disease_id": "DOID:0050777",
    "recommended_name": {
        "id": "DOID:0050777",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050777",
        "name": "Joubert syndrome",
        "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."
    },
    "synonyms": [
        {
            "id": "DOID:0050777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050777",
            "name": "JBTS",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene."
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CORS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CPD4",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "INPP5E Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "JBTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome caused by mutation in INPP5E",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:213300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213300",
            "name": "Joubert syndrome 1",
            "description": "Joubert syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060376",
            "label": "Joubert syndrome with orofaciodigital defect",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080275",
            "label": "Joubert syndrome 30",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080277",
            "label": "Joubert syndrome 31",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080278",
            "label": "Joubert syndrome 32",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080279",
            "label": "Joubert syndrome 33",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110980",
            "label": "Joubert syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110981",
            "label": "Joubert syndrome 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110982",
            "label": "Joubert syndrome 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110983",
            "label": "Joubert syndrome 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110984",
            "label": "Joubert syndrome 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110985",
            "label": "Joubert syndrome 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110986",
            "label": "Joubert syndrome 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110987",
            "label": "Joubert syndrome 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110988",
            "label": "Joubert syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110989",
            "label": "Joubert syndrome 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110990",
            "label": "Joubert syndrome 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110991",
            "label": "Joubert syndrome 22",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110992",
            "label": "Joubert syndrome 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110993",
            "label": "Joubert syndrome 24",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110994",
            "label": "Joubert syndrome 25",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110995",
            "label": "Joubert syndrome 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110996",
            "label": "Joubert syndrome 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110997",
            "label": "Joubert syndrome 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110998",
            "label": "Joubert syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110999",
            "label": "Joubert syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111000",
            "label": "Joubert syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111001",
            "label": "Joubert syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111002",
            "label": "Joubert syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111003",
            "label": "Joubert syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111004",
            "label": "Joubert syndrome 9",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110999",
        "DOID:0110981",
        "DOID:0110996",
        "DOID:0110991",
        "DOID:0110982",
        "DOID:0111003",
        "DOID:0110997",
        "DOID:0111002",
        "DOID:0110988",
        "DOID:0110992",
        "DOID:0110990",
        "DOID:0080277",
        "DOID:0110986",
        "DOID:0111001",
        "DOID:0110989",
        "DOID:0110985",
        "DOID:0110980",
        "DOID:0110994",
        "DOID:0110993",
        "DOID:0111000",
        "DOID:0080275",
        "DOID:0050777",
        "DOID:0110987",
        "DOID:0111004",
        "DOID:0080279",
        "DOID:0110983",
        "DOID:0110984",
        "DOID:0110995",
        "DOID:0060376",
        "DOID:0110998",
        "DOID:0080278"
    ],
    "unlinked_id_list": []
}