{
  "id": 14165,
  "label": "familial juvenile hyperuricemic nephropathy type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013128",
  "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)."
  },
  "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": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3020,
      "label": "familial juvenile hyperuricemic nephropathy"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}