{
    "disease_id": "DOID:0110988",
    "recommended_name": {
        "id": "DOID:0110988",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110988",
        "name": "Joubert syndrome 2",
        "description": "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110988",
            "name": "CORS2",
            "description": ""
        },
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110988",
            "name": "JBTS2",
            "description": ""
        },
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110988",
            "name": "cerebellooculorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome 2",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene."
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "CORS2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "JBTS2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome caused by mutation in TMEM216",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "TMEM216 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "cerebellooculorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Cerebellooculorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:608091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608091",
            "name": "Joubert syndrome 2",
            "description": "Joubert syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110988"
    ],
    "unlinked_id_list": []
}
