{
    "disease_id": "DOID:0110983",
    "recommended_name": {
        "id": "DOID:0110983",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110983",
        "name": "Joubert syndrome 14",
        "description": "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110983",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110983",
            "name": "JBTS14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome 14",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene."
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "JBTS14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome caused by mutation in TMEM237",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "TMEM237 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:614424",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614424",
            "name": "Joubert syndrome 14",
            "description": "Joubert syndrome 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110983"
    ],
    "unlinked_id_list": []
}