{
  "id": 18921,
  "label": "familial idiopathic steroid-resistant nephrotic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019006",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 4449,
      "label": "familial nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7058,
        23932
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002350"
    },
    {
      "id": 18314,
      "label": "idiopathic nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7058,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021539",
          "MEDGEN:501252",
          "NANDO:1200719",
          "NCIT:C122796",
          "Orphanet:357502",
          "UMLS:C3496337"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nephrotic syndrome for which no cause has been identified."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018170"
    },
    {
      "id": 23429,
      "label": "steroid-resistant nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7058
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0044765"
    }
  ],
  "children": [
    {
      "id": 12103,
      "label": "nephrotic syndrome, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080379",
          "GARD:0015326",
          "MEDGEN:358380",
          "OMIM:600995",
          "UMLS:C1868672"
        ],
        "synonyms": [
          "NPHS2 nephrotic syndrome",
          "nephrotic syndrome caused by mutation in NPHS2",
          "nephrotic syndrome, type 2",
          "NPHS2",
          "SRN1",
          "nephrotic syndrome, idiopathic, steroid-resistant",
          "nephrotic syndrome, steroid-resistant, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010974"
    },
    {
      "id": 12419,
      "label": "focal segmental glomerulosclerosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046,
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111128",
          "GARD:0015353",
          "MEDGEN:1636833",
          "MESH:C538457",
          "OMIM:603278",
          "Orphanet:93213",
          "UMLS:C4551527"
        ],
        "synonyms": [
          "ACTN4 focal segmental glomerulosclerosis",
          "FSGS1",
          "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 1",
          "focal segmental glomerulosclerosis caused by mutation in ACTN4",
          "focal segmental glomerulosclerosis type 1",
          "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis",
          "glomerulosclerosis, focal segmental, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011303"
    },
    {
      "id": 13594,
      "label": "nephrotic syndrome, type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080382",
          "GARD:0015495",
          "MEDGEN:377831",
          "OMIM:610725",
          "UMLS:C1853124"
        ],
        "synonyms": [
          "PLCE1 nephrotic syndrome",
          "nephrotic syndrome caused by mutation in PLCE1",
          "nephrotic syndrome, type 3",
          "NPHS3",
          "nephrotic syndrome, early-onset, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012546"
    },
    {
      "id": 14644,
      "label": "nephrotic syndrome, type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080384",
          "GARD:0015770",
          "MEDGEN:481730",
          "OMIM:614196",
          "UMLS:C3280100"
        ],
        "synonyms": [
          "PTPRO nephrotic syndrome",
          "nephrotic syndrome caused by mutation in PTPRO",
          "nephrotic syndrome, type 6",
          "NPHS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013619"
    },
    {
      "id": 14850,
      "label": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296,
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070243",
          "GARD:0017295",
          "MEDGEN:766263",
          "OMIM:614650",
          "Orphanet:280406",
          "UMLS:C3553349"
        ],
        "synonyms": [
          "coenzyme Q10 deficiency, primary, type 6",
          "COQ10D6",
          "coenzyme Q10 deficiency, primary, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013836"
    },
    {
      "id": 15108,
      "label": "nephrotic syndrome, type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080389",
          "GARD:0015925",
          "MEDGEN:815283",
          "OMIM:615244",
          "UMLS:C3808953"
        ],
        "synonyms": [
          "ARHGDIA nephrotic syndrome",
          "nephrotic syndrome caused by mutation in ARHGDIA",
          "nephrotic syndrome, type 8",
          "NPHS8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014099"
    },
    {
      "id": 15262,
      "label": "nephrotic syndrome, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080391",
          "GARD:0015989",
          "MEDGEN:816295",
          "OMIM:615573",
          "UMLS:C3809965"
        ],
        "synonyms": [
          "COQ8B nephrotic syndrome",
          "nephrotic syndrome caused by mutation in COQ8B",
          "nephrotic syndrome, type 9",
          "NPHS9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014257"
    },
    {
      "id": 15375,
      "label": "nephrotic syndrome, type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080386",
          "GARD:0024991",
          "MEDGEN:862944",
          "OMIM:615861",
          "UMLS:C4014507"
        ],
        "synonyms": [
          "EMP2 nephrotic syndrome",
          "nephrotic syndrome caused by mutation in EMP2",
          "nephrotic syndrome, type 10",
          "NPHS10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014373"
    },
    {
      "id": 15744,
      "label": "nephrotic syndrome, type 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080385",
          "GARD:0016155",
          "MEDGEN:898622",
          "OMIM:616730",
          "UMLS:C4225228"
        ],
        "synonyms": [
          "NPHS11",
          "NUP107 familial nephrotic syndrome",
          "Nup107 familial nephrotic syndrome",
          "familial nephrotic syndrome caused by mutation in NUP107",
          "familial nephrotic syndrome caused by mutation in Nup107",
          "nephrotic syndrome, type 11",
          "nephrotic syndrome, type 11; NPHS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014752"
    },
    {
      "id": 15804,
      "label": "nephrotic syndrome, type 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080387",
          "GARD:0016166",
          "MEDGEN:904365",
          "OMIM:616892",
          "UMLS:C4225166"
        ],
        "synonyms": [
          "NPHS12",
          "NUP93 familial nephrotic syndrome",
          "familial nephrotic syndrome caused by mutation in NUP93",
          "nephrotic syndrome, type 12",
          "nephrotic syndrome, type 12; NPHS12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014817"
    },
    {
      "id": 15805,
      "label": "nephrotic syndrome, type 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080381",
          "GARD:0016167",
          "MEDGEN:900240",
          "OMIM:616893",
          "UMLS:C4225165"
        ],
        "synonyms": [
          "NPHS13",
          "NUP205 familial nephrotic syndrome",
          "familial nephrotic syndrome caused by mutation in NUP205",
          "nephrotic syndrome, type 13",
          "nephrotic syndrome, type 13; NPHS13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014818"
    },
    {
      "id": 19442,
      "label": "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:93214"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019652"
    },
    {
      "id": 19443,
      "label": "familial idiopathic steroid-resistant nephrotic syndrome with minimal changes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:93216"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019653"
    },
    {
      "id": 19444,
      "label": "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "NANDO:2200111",
          "Orphanet:93217"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019654"
    }
  ],
  "roots": [
    {
      "id": 4449,
      "label": "familial nephrotic syndrome"
    },
    {
      "id": 18314,
      "label": "idiopathic nephrotic syndrome"
    },
    {
      "id": 23429,
      "label": "steroid-resistant nephrotic syndrome"
    }
  ]
}