{
  "id": 20132,
  "label": "tubulointerstitial kidney disease, autosomal dominant, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020726",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3020,
      "label": "familial juvenile hyperuricemic nephropathy"
    },
    {
      "id": 9571,
      "label": "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"
    }
  ]
}