{
  "id": 20057,
  "label": "polycystic kidney disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020642",
  "properties": {
    "xrefs": [
      "DOID:0080322",
      "EFO:0008620",
      "MEDGEN:9639",
      "MESH:D007690",
      "NANDO:1200367",
      "NANDO:2200152",
      "NCIT:C75464",
      "OMIMPS:173900",
      "SCTID:82525005",
      "UMLS:C0022680"
    ],
    "synonyms": [
      "PKD - polycystic kidney disease",
      "fibrocystic renal disease",
      "polycystic kidney disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 6472,
      "label": "autosomal dominant polycystic kidney disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        20057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:898",
          "EFO:1001496",
          "ICD9:753.12",
          "ICD9:753.13",
          "MEDGEN:88404",
          "MESH:D016891",
          "NANDO:1200368",
          "NANDO:2200153",
          "NCIT:C84578",
          "NORD:828",
          "Orphanet:730",
          "SCTID:765330003",
          "UMLS:C0085413",
          "icd11.foundation:91220434"
        ],
        "synonyms": [
          "ADPKD",
          "autosomal dominant polycystic kidney disease",
          "polycystic kidney disease, autosomal dominant",
          "congenital biliary ectasias"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Autosomal dominant form of polycystic kidney disease."
      },
      "child_count": 14,
      "reference_id": "MONDO:0004691"
    },
    {
      "id": 11092,
      "label": "autosomal recessive polycystic kidney disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        20057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110861",
          "GARD:0008378",
          "ICD9:753.14",
          "MEDGEN:39076",
          "MedDRA:10036047",
          "NANDO:1200369",
          "NANDO:2200154",
          "NCIT:C84579",
          "NORD:831",
          "Orphanet:731",
          "SCTID:28770003",
          "UMLS:C0085548",
          "icd11.foundation:1424110943"
        ],
        "synonyms": [
          "AR-PKD",
          "ARPKD",
          "autosomal recessive polycystic kidney",
          "polycystic kidney disease, autosomal recessive",
          "polycystic kidney disease, infantile type",
          "polycystic kidney and hepatic disease 1",
          "polycystic kidney disease, infantile, type I",
          "PKHD1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009889"
    }
  ],
  "roots": [
    {
      "id": 19499,
      "label": "familial cystic renal disease"
    }
  ]
}