{
    "disease_id": "DOID:0080379",
    "recommended_name": {
        "id": "DOID:0080379",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080379",
        "name": "nephrotic syndrome type 2",
        "description": "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080379",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080379",
            "name": "steroid-resistant autosomal recessive nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "nephrotic syndrome, type 2",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene."
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "NPHS2 nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "nephrotic syndrome caused by mutation in NPHS2",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "nephrotic syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "NPHS2",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "SRN1",
            "description": ""
        },
        {
            "id": "MONDO:0010974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010974",
            "name": "nephrotic syndrome, idiopathic, steroid-resistant",
            "description": ""
        },
        {
            "id": "MIM:600995",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600995",
            "name": "Nephrotic syndrome 2",
            "description": "Nephrotic syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080379"
    ],
    "unlinked_id_list": []
}