{
  "id": 3020,
  "label": "familial juvenile hyperuricemic nephropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000608",
  "properties": {
    "xrefs": [
      "DOID:0060062",
      "MESH:C537696",
      "NANDO:2100014",
      "NANDO:2200139",
      "OMIMPS:162000",
      "SCTID:46785007",
      "icd11.foundation:1143722735"
    ],
    "synonyms": [
      "FJHN",
      "familial juvenile gouty nephropathy",
      "familial juvenile hyperuricemic nephropathy",
      "familial nephropathy associated with hyperuricemia",
      "familial nephropathy with gout",
      "gouty nephropathy, familial juvenile",
      "juvenile gout",
      "juvenile gouty nephropathy",
      "nephropathy, familial, with gout",
      "tubulointerstitial kidney disease",
      "gouty nephropathy, familial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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": 9395,
      "label": "familial juvenile hyperuricemic nephropathy type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020,
        9571,
        19100
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061122",
          "GARD:0010679",
          "MEDGEN:1645893",
          "MESH:C563693",
          "NCIT:C123172",
          "NORD:827",
          "OMIM:162000",
          "OMIM:603860",
          "OMIM:609886",
          "Orphanet:209886",
          "Orphanet:88950",
          "SCTID:445503007",
          "UMLS:C4551496"
        ],
        "synonyms": [
          "familial juvenile gouty nephropathy",
          "familial nephropathy with gout",
          "gouty nephropathy, familial juvenile",
          "hyperuricemic nephropathy, familial juvenile",
          "nephropathy, familial, with gout",
          "ADTKD-UMOD",
          "Autosomal Dominant Tubulo-Interstitial Kidney Disease",
          "FJHN type 1",
          "HNFJ1",
          "UMOD familial juvenile hyperuricemic nephropathy",
          "UMOD-associated FJHN",
          "UMOD-associated familial juvenile hyperuricemic nephropathy",
          "UMOD-related ADTKD",
          "UMOD-related kidney disease",
          "autosomal dominant medullary cystic kidney disease type 2",
          "autosomal dominant medullary cystic kidney disease with hyperuricemia",
          "autosomal dominant tubulointerstitial kidney disease - UMOD",
          "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD",
          "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD",
          "glomerulocystic kidney disease with hyperuricemia and isosthenuria",
          "hyperuricemic nephropathy, familial juvenile, 1",
          "hyperuricemic nephropathy, familial juvenile, type 1",
          "medullary cystic kidney disease 2",
          "medullary cystic kidney disease type 2",
          "medullary cystic kidney disease type II",
          "tubulointerstitial kidney disease, autosomal dominant, 1",
          "uromodulin storage disease",
          "uromodulin-associated kidney disease",
          "ADMCKD2",
          "MCKD2",
          "UMOD-related autosomal dominant tubulointerstitial kidney disease",
          "familial juvenile hyperuricaemic nephropathy",
          "medullary cystic kidney disease 2, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008073"
    },
    {
      "id": 14165,
      "label": "familial juvenile hyperuricemic nephropathy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061119",
          "GARD:0013461",
          "MEDGEN:414347",
          "MESH:C567760",
          "OMIM:613092",
          "Orphanet:217330",
          "SCTID:721840000",
          "UMLS:C2751310"
        ],
        "synonyms": [
          "ADTKD-REN",
          "FJHN type 2",
          "REN familial juvenile hyperuricemic nephropathy",
          "REN-associated FJHN",
          "REN-associated familial juvenile hyperuricemic nephropathy",
          "REN-associated kidney disease",
          "autosomal dominant tubulointerstitial kidney disease due to mutations in REN",
          "familial juvenile hyperuricemic nephropathy caused by mutation in REN",
          "familial juvenile hyperuricemic nephropathy type 2",
          "hyperuricemic nephropathy, familial juvenile, type 2",
          "tubulointerstitial kidney disease, autosomal dominant, 4",
          "HNFJ2",
          "REN-related autosomal dominant tubulointerstitial kidney disease",
          "early-onset hyperuricemia, Anemia, and progressive kidney failure",
          "hyperuricemic nephropathy, familial juvenile, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013128"
    },
    {
      "id": 14668,
      "label": "hyperuricemic nephropathy, familial juvenile type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:481846",
          "OMIM:614227",
          "UMLS:C3280216"
        ],
        "synonyms": [
          "HNFJ3",
          "hyperuricemic nephropathy, familial juvenile, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013643"
    },
    {
      "id": 15872,
      "label": "hyperuricemic nephropathy, familial juvenile type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020,
        24066
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061120",
          "MEDGEN:934708",
          "OMIM:617056",
          "UMLS:C4310741"
        ],
        "synonyms": [
          "ADTKD-SEC61A1",
          "HNFJ4",
          "SEC61A1 familial juvenile hyperuricemic nephropathy",
          "SEC61A1-related autosomal dominant tubulointerstitial kidney disease",
          "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1",
          "hyperuricemic nephropathy, familial juvenile, 4",
          "hyperuricemic nephropathy, familial juvenile, type 4",
          "tubulointerstitial kidney disease, autosomal dominant, 5",
          "hyperuricemic NEPHROPATHY, familial juvenile, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014891"
    },
    {
      "id": 20132,
      "label": "tubulointerstitial kidney disease, autosomal dominant, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020,
        9571
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061118",
          "GARD:0007002",
          "MEDGEN:358137",
          "NCIT:C123171",
          "OMIM:174000",
          "Orphanet:88949",
          "UMLS:C1868139"
        ],
        "synonyms": [
          "ADTKD-MUC1",
          "MCKD1",
          "MUC1-related autosomal dominant medullary cystic kidney disease",
          "MUCI-related ADTKD",
          "autosomal dominant medullary cystic kidney disease without hyperuricemia",
          "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1",
          "medullary cystic kidney disease 1",
          "medullary cystic kidney disease type 1",
          "medullary cystic kidney disease, autosomal dominant",
          "ADMCKD1",
          "MUC1-related autosomal dominant tubulointerstitial kidney disease",
          "Mckd",
          "polycystic kidneys, medullary type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020726"
    },
    {
      "id": 26203,
      "label": "tubulointerstitial kidney disease, autosomal dominant 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061121",
          "MEDGEN:1876482",
          "OMIM:621106",
          "UMLS:C6012701"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976234"
    }
  ],
  "roots": [
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}