{
    "disease_id": "DOID:0111125",
    "recommended_name": {
        "id": "DOID:0111125",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111125",
        "name": "nephronophthisis 18",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111125",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111125",
            "name": "NPHP18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis 18",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene."
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "CEP83 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "NPHP18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis (disease) caused by mutation in CEP83",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis 18",
            "description": ""
        },
        {
            "id": "MONDO:0014374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014374",
            "name": "nephronophthisis type 18",
            "description": ""
        },
        {
            "id": "MIM:615862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615862",
            "name": "Nephronophthisis 18",
            "description": "Nephronophthisis 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111125"
    ],
    "unlinked_id_list": []
}