{
  "id": 15872,
  "label": "hyperuricemic nephropathy, familial juvenile type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014891",
  "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."
  },
  "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": 24066,
      "label": "SEC61A1 deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "SEC61A1 deficiency"
        ],
        "definition": "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100337"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3020,
      "label": "familial juvenile hyperuricemic nephropathy"
    },
    {
      "id": 24066,
      "label": "SEC61A1 deficiency"
    }
  ]
}