{
  "id": 9571,
  "label": "autosomal dominant medullary cystic kidney disease with or without hyperuricemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008264",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 19499,
      "label": "familial cystic renal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4553,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019228",
          "MEDGEN:1842297",
          "Orphanet:93587",
          "UMLS:C5680285"
        ],
        "synonyms": [
          "hereditary cystic kidney disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019741"
    }
  ],
  "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": 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"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19499,
      "label": "familial cystic renal disease"
    }
  ]
}