{
  "id": 23429,
  "label": "steroid-resistant nephrotic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044765",
  "properties": {
    "xrefs": [
      "GARD:0027973",
      "GTR:AN0096391",
      "GTR:AN0096395",
      "GTR:AN0200342",
      "GTR:AN0255485",
      "MEDGEN:588369",
      "NCIT:C122798",
      "SCTID:236381000",
      "UMLS:C0403397"
    ],
    "synonyms": [
      "nephrotic syndrome of childhood - steroid resistant",
      "nephrotic syndrome-steroid-resistant",
      "steroid-resistant nephrotic syndrome",
      "nephrotic syndrome, idiopathic, steroid-resistant",
      "nephrotic syndrome, steroid-resistant, autosomal recessive",
      "NPHS2",
      "SRNS - steroid-resistant nephrotic syndrome",
      "steroid-unresponsive nephrotic syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7058,
      "label": "nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1184",
          "EFO:0004255",
          "GARD:0027721",
          "ICD10CM:N04",
          "ICD10WHO:N04",
          "ICD9:581",
          "ICD9:581.9",
          "MEDGEN:10308",
          "MESH:D009404",
          "NANDO:2100009",
          "NCIT:C34845",
          "SCTID:52254009",
          "UMLS:C0027726",
          "icd11.foundation:1184209951"
        ],
        "synonyms": [
          "nephrotic syndrome",
          "nephrotic syndromes",
          "syndrome, nephrotic",
          "syndromes, nephrotic",
          "nephrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction."
      },
      "child_count": 8,
      "reference_id": "MONDO:0005377"
    }
  ],
  "children": [
    {
      "id": 18921,
      "label": "familial idiopathic steroid-resistant nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4449,
        18314,
        23429
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003946",
          "MEDGEN:902527",
          "Orphanet:656",
          "SCTID:718141008",
          "UMLS:C4273714",
          "icd11.foundation:1385860879"
        ],
        "synonyms": [
          "familial idiopathic nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset."
      },
      "child_count": 42,
      "reference_id": "MONDO:0019006"
    },
    {
      "id": 19230,
      "label": "sporadic idiopathic steroid-resistant nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18314,
        23429
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025136",
          "MEDGEN:897207",
          "Orphanet:84271",
          "SCTID:717191005",
          "UMLS:C4274017"
        ],
        "synonyms": [
          "sporadic idiopathic nephrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019401"
    },
    {
      "id": 22625,
      "label": "nephrotic syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449,
        16607,
        18270,
        23429
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080265",
          "GARD:0013818",
          "MEDGEN:1617660",
          "OMIM:617575",
          "Orphanet:506334",
          "UMLS:C4540559"
        ],
        "synonyms": [
          "RENI syndrome",
          "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14",
          "SPLIS",
          "familial steroid-resistant nephrotic syndrome with adrenal insufficiency",
          "nephrotic syndrome 14",
          "nephrotic syndrome, type 14",
          "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency",
          "renal, endocrine, neurologic and immune syndrome",
          "sphingosine phosphate lyase insufficiency syndrome",
          "NPHS14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033203"
    },
    {
      "id": 23435,
      "label": "nephrotic syndrome of childhood - steroid sensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23429
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027974",
          "MEDGEN:588368",
          "NCIT:C122797",
          "SCTID:236380004",
          "UMLS:C0403396"
        ],
        "synonyms": [
          "nephrotic syndrome of childhood - steroid sensitive",
          "steroid-responsive nephrotic syndrome",
          "steroid-sensitive nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044781"
    }
  ],
  "roots": [
    {
      "id": 7058,
      "label": "nephrotic syndrome"
    }
  ]
}