{
  "id": 4449,
  "label": "familial nephrotic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002350",
  "properties": {
    "xrefs": [
      "DOID:2590",
      "GARD:0027602",
      "MEDGEN:502251",
      "NCIT:C35337",
      "OMIMPS:256300",
      "SCTID:48796009",
      "UMLS:C3501848",
      "icd11.foundation:1524476844"
    ],
    "synonyms": [
      "congenital nephrotic syndrome",
      "hereditary nephrotic syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 18,
  "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"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "id": 10944,
      "label": "congenital nephrotic syndrome, Finnish type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080390",
          "GARD:0001500",
          "MEDGEN:98011",
          "MedDRA:10060740",
          "NANDO:2200110",
          "NCIT:C122795",
          "OMIM:256300",
          "Orphanet:839",
          "SCTID:197601003",
          "UMLS:C0403399"
        ],
        "synonyms": [
          "Finnish congenital nephrosis",
          "congenital nephrotic syndrome - Finnish type",
          "congenital nephrotic syndrome, Finnish type",
          "nephrotic syndrome - NPHS1 associated",
          "CnF",
          "NPHS1",
          "congenital nephrotic syndrome 1",
          "congenital nephrotic syndrome Finnish type",
          "nephrosis 1, congenital, Finnish type",
          "nephrosis, congenital",
          "nephrotic syndrome, congenital",
          "nephrotic syndrome, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009732"
    },
    {
      "id": 10945,
      "label": "nephrotic syndrome, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080383",
          "GARD:0015210",
          "MEDGEN:462918",
          "NCIT:C121198",
          "OMIM:256370",
          "UMLS:C3151568"
        ],
        "synonyms": [
          "WT1 nephrotic syndrome",
          "congenital nephrotic syndrome - diffuse mesangial sclerosis",
          "nephrotic syndrome caused by mutation in WT1",
          "nephrotic syndrome, type 4",
          "DMS",
          "NPHS4",
          "diffuse isolated mesangial sclerosis",
          "diffuse mesangial sclerosis",
          "familial mesangial sclerosis",
          "isolated diffuse mesangial sclerosis",
          "mesangial sclerosis, diffuse",
          "nephrotic syndrome, early onset with diffuse mesangial sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009733"
    },
    {
      "id": 14646,
      "label": "LAMB2-related infantile-onset nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080380",
          "GARD:0027849",
          "MEDGEN:481743",
          "MESH:C565405",
          "OMIM:249660",
          "OMIM:614199",
          "Orphanet:306507",
          "UMLS:C3280113"
        ],
        "synonyms": [
          "mesangial sclerosis, diffuse renal, with ocular abnormalities",
          "NPHS5",
          "nephrotic syndrome, type 5, with or without ocular abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."
      },
      "child_count": 1,
      "reference_id": "MONDO:0013621"
    },
    {
      "id": 15015,
      "label": "immunoglobulin-mediated membranoproliferative glomerulonephritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449,
        7021,
        18832
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080388",
          "GARD:0017506",
          "MEDGEN:767244",
          "NANDO:1200726",
          "NCIT:C123055",
          "OMIM:615008",
          "Orphanet:329903",
          "UMLS:C3554330"
        ],
        "synonyms": [
          "Ig-mediated MPGN",
          "Ig-mediated membranoproliferative glomerulonephritis",
          "NPHS7",
          "immune complex mediated membranoproliferative glomerulonephritis",
          "immunoglobulin-mediated MPGN",
          "immunoglobulin-mediated membranoproliferative glomerulonephritis",
          "membranoproliferative glomerulonephritis type I",
          "mesangiocapillary glomerulonephritis type 1",
          "nephrotic syndrome, type 7",
          "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014005"
    },
    {
      "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": 21732,
      "label": "nephrotic syndrome, type 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070357",
          "GARD:0015285",
          "MEDGEN:1678854",
          "OMIM:301028",
          "UMLS:C5193011"
        ],
        "synonyms": [
          "NEPHROTIC SYNDROME, TYPE 20",
          "NPHS20"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026726"
    },
    {
      "id": 22102,
      "label": "nephrotic syndrome, type 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112268",
          "GARD:0016428",
          "MEDGEN:1745920",
          "OMIM:619155",
          "UMLS:C5436909"
        ],
        "synonyms": [
          "NPHS22",
          "nephrotic syndrome, type 22"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030895"
    },
    {
      "id": 22150,
      "label": "nephrotic syndrome, type 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112266",
          "GARD:0016435",
          "MEDGEN:1787011",
          "OMIM:619201",
          "UMLS:C5543092"
        ],
        "synonyms": [
          "NPHS23",
          "nephrotic syndrome, type 23"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030962"
    },
    {
      "id": 22192,
      "label": "nephrotic syndrome, type 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061194",
          "GARD:0018003",
          "MEDGEN:1781068",
          "OMIM:619263",
          "Orphanet:567548",
          "UMLS:C5543267"
        ],
        "synonyms": [
          "NPHS24",
          "idiopathic SRNS",
          "idiopathic steroid-resistant nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031008"
    },
    {
      "id": 22215,
      "label": "nephrotic syndrome, IIa 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061193",
          "GARD:0027935",
          "MEDGEN:1823994",
          "OMIM:620049",
          "UMLS:C5774221"
        ],
        "synonyms": [
          "NPHS26",
          "nephrotic syndrome, IIa 26"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031061"
    },
    {
      "id": 22270,
      "label": "nephrotic syndrome, type 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080392",
          "GARD:0016299",
          "MEDGEN:1648294",
          "OMIM:618176",
          "UMLS:C4748545"
        ],
        "synonyms": [
          "NEPHROTIC SYNDROME, TYPE 17",
          "NPHS17"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032580"
    },
    {
      "id": 22271,
      "label": "nephrotic syndrome, type 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080393",
          "GARD:0016300",
          "MEDGEN:1648464",
          "OMIM:618177",
          "UMLS:C4748549"
        ],
        "synonyms": [
          "NEPHROTIC SYNDROME, TYPE 18",
          "NPHS18"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032581"
    },
    {
      "id": 22272,
      "label": "nephrotic syndrome, type 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080394",
          "GARD:0016301",
          "MEDGEN:1648305",
          "OMIM:618178",
          "UMLS:C4748552"
        ],
        "synonyms": [
          "NEPHROTIC SYNDROME, TYPE 19",
          "NPHS19"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032582"
    },
    {
      "id": 22482,
      "label": "nephrotic syndrome, type 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112267",
          "GARD:0027944",
          "MEDGEN:1684676",
          "OMIM:618594",
          "UMLS:C5231498"
        ],
        "synonyms": [
          "NEPHROTIC SYNDROME, TYPE 21",
          "NPHS21"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032826"
    },
    {
      "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": 22631,
      "label": "nephrotic syndrome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080271",
          "GARD:0027951",
          "MEDGEN:1620414",
          "OMIM:617609",
          "UMLS:C4539896"
        ],
        "synonyms": [
          "nephrotic syndrome 15",
          "nephrotic syndrome, type 15",
          "NPHS15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033262"
    },
    {
      "id": 22632,
      "label": "nephrotic syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080272",
          "GARD:0027952",
          "MEDGEN:1622427",
          "OMIM:617783",
          "UMLS:C4540453"
        ],
        "synonyms": [
          "nephrotic syndrome 16",
          "nephrotic syndrome, type 16",
          "NPHS16"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033280"
    },
    {
      "id": 22853,
      "label": "idiopathic multidrug-resistant nephrotic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4449,
        18314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022287",
          "ICD10CM:N04.8",
          "MEDGEN:1842472",
          "Orphanet:567550",
          "UMLS:C5681293"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035459"
    }
  ],
  "roots": [
    {
      "id": 7058,
      "label": "nephrotic syndrome"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}