{
  "id": 9395,
  "label": "familial juvenile hyperuricemic nephropathy type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008073",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3020,
      "label": "familial juvenile hyperuricemic nephropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23932
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000608"
    },
    {
      "id": 9571,
      "label": "autosomal dominant medullary cystic kidney disease with or without hyperuricemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010801",
          "MEDGEN:1377523",
          "MESH:C536137",
          "Orphanet:34149",
          "SCTID:444699000",
          "UMLS:C4511620",
          "icd11.foundation:216863438"
        ],
        "synonyms": [
          "ADTKD",
          "autosomal dominant interstitial kidney disease",
          "autosomal dominant medullary cystic kidney disease",
          "autosomal dominant medullary cystic kidney disease with or without hyperuricemia",
          "MCKD",
          "autosomal dominant tubulointerstitial kidney disease",
          "medullary cystic disease",
          "medullary cystic kidney disease",
          "polycystic kidneys, medullary type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008264"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018965",
          "MedDRA:10061476",
          "Orphanet:79191",
          "icd11.foundation:1958565793"
        ],
        "synonyms": [
          "inborn error of purine nucleobase metabolic process",
          "inborn purine nucleobase metabolic process disorder",
          "rare inborn error of purine nucleobase metabolic process",
          "disorder of purine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019236"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3020,
      "label": "familial juvenile hyperuricemic nephropathy"
    },
    {
      "id": 9571,
      "label": "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism"
    }
  ]
}