{
  "id": 7021,
  "label": "hereditary nephritis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005334",
  "properties": {
    "xrefs": [
      "MEDGEN:10305",
      "MESH:D009394",
      "SCTID:399340005",
      "UMLS:C0027706"
    ],
    "synonyms": [
      "hereditary nephritis",
      "familial nephritis",
      "nephritis, familial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 3410,
      "label": "nephritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10952",
          "EFO:1002050",
          "ICD9:583.7",
          "ICD9:583.89",
          "ICD9:583.9",
          "MEDGEN:14328",
          "MESH:D009393",
          "NCIT:C26833",
          "SCTID:52845002",
          "UMLS:C0027697"
        ],
        "synonyms": [
          "inflammation of kidney",
          "kidney inflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Inflammation of renal tissue."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001166"
    },
    {
      "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": 7028,
      "label": "IgA glomerulonephritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4542,
        7021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2986",
          "EFO:0004194",
          "GARD:0000863",
          "ICD9:583.9",
          "MEDGEN:9032",
          "MESH:D005922",
          "NANDO:1200366",
          "NANDO:2200121",
          "NCIT:C34643",
          "NORD:1298",
          "Orphanet:34145",
          "SCTID:68779003",
          "UMLS:C0017661"
        ],
        "synonyms": [
          "Berger's disease",
          "IgA Nephropathy",
          "IgA glomerulonephritis",
          "IgA nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Inflammation of a specific segment of glomeruli within the kidney."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005342"
    },
    {
      "id": 8807,
      "label": "Balkan nephropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3337,
        7021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3052",
          "EFO:0007164",
          "GARD:0008576",
          "ICD10CM:N15.0",
          "ICD9:583.89",
          "MEDGEN:495",
          "MESH:D001449",
          "NCIT:C123025",
          "OMIM:124100",
          "SCTID:26121002",
          "UMLS:C0004698",
          "icd11.foundation:18497836"
        ],
        "synonyms": [
          "Balkan endemic nephropathy",
          "Chinese herb endemic nephropathy",
          "Danubian endemic familial nephropathy",
          "aristolochic acid nephropathy",
          "endemic nephropathy",
          "AAN",
          "BEN",
          "DEFN",
          "nephropathia epidemica"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007416"
    },
    {
      "id": 13404,
      "label": "complement factor H deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7021,
        18187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018551",
          "ICD9:279.8",
          "MEDGEN:96024",
          "MESH:C562875",
          "NANDO:2200791",
          "OMIM:609814",
          "SCTID:234622003",
          "UMLS:C0398777"
        ],
        "synonyms": [
          "complement factor H deficiency",
          "CFHD",
          "Cfh deficiency",
          "factor H deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0012350"
    },
    {
      "id": 14904,
      "label": "C3 glomerulonephritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7021,
        18187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016487",
          "MEDGEN:884569",
          "NCIT:C123043",
          "OMIM:614809",
          "Orphanet:329931",
          "UMLS:C4055342"
        ],
        "synonyms": [
          "complement-mediated membranoproliferative glomerulonephritis",
          "nephropathy due to CFHR5 deficiency",
          "CFHR5 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013892"
    },
    {
      "id": 14910,
      "label": "karyomegalic interstitial nephritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3337,
        7021,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060911",
          "GARD:0011003",
          "MEDGEN:766688",
          "NCIT:C173626",
          "OMIM:614817",
          "Orphanet:401996",
          "UMLS:C3553774"
        ],
        "synonyms": [
          "FAN1 interstitial nephritis",
          "KIN",
          "KMIN",
          "interstitial nephritis caused by mutation in FAN1",
          "karyomegalic interstitial nephritis",
          "kin",
          "systemic karyomegaly",
          "interstitial nephritis, karyomegalic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013898"
    },
    {
      "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": 18887,
      "label": "Alport syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10983",
          "GARD:0005785",
          "ICD10CM:Q87.81",
          "MEDGEN:339209",
          "MedDRA:10001843",
          "NANDO:1200712",
          "NANDO:2200126",
          "NCIT:C34842",
          "NORD:756",
          "OMIMPS:301050",
          "Orphanet:63",
          "UMLS:C1567741",
          "icd11.foundation:1170919425"
        ],
        "synonyms": [
          "hereditary nephritis",
          "Alport deafness-nephropathy",
          "Alport syndrome",
          "Alport's syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018965"
    }
  ],
  "roots": [
    {
      "id": 3410,
      "label": "nephritis"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}