{
    "disease_id": "DOID:0080387",
    "recommended_name": {
        "id": "DOID:0080387",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080387",
        "name": "nephrotic syndrome type 12",
        "description": "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12",
            "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene."
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "NPHS12",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "NUP93 familial nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "familial nephrotic syndrome caused by mutation in NUP93",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12; NPHS12",
            "description": ""
        },
        {
            "id": "MIM:616892",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616892",
            "name": "Nephrotic syndrome 12",
            "description": "Nephrotic syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080387"
    ],
    "unlinked_id_list": []
}
