{
    "disease_id": "DOID:0110992",
    "recommended_name": {
        "id": "DOID:0110992",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110992",
        "name": "Joubert syndrome 23",
        "description": "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110992",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110992",
            "name": "JBTS23",
            "description": ""
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "Joubert syndrome 23",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene."
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "JBTS23",
            "description": ""
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "Joubert syndrome 23",
            "description": ""
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "Joubert syndrome caused by mutation in KIAA0586",
            "description": ""
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "Joubert syndrome type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014664",
            "name": "KIAA0586 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:616490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616490",
            "name": "Joubert syndrome 23",
            "description": "Joubert syndrome 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110992"
    ],
    "unlinked_id_list": []
}