{
    "disease_id": "DOID:0080391",
    "recommended_name": {
        "id": "DOID:0080391",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080391",
        "name": "nephrotic syndrome type 9",
        "description": "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome, type 9",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene."
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "COQ8B nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome caused by mutation in COQ8B",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "NPHS9",
            "description": ""
        },
        {
            "id": "MIM:615573",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615573",
            "name": "Nephrotic syndrome 9",
            "description": "Nephrotic syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080391"
    ],
    "unlinked_id_list": []
}
