{
  "id": 6472,
  "label": "autosomal dominant polycystic kidney disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004691",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 20057,
      "label": "polycystic kidney disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19499
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020642"
    }
  ],
  "children": [
    {
      "id": 9570,
      "label": "polycystic kidney disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110858",
          "GARD:0018597",
          "MEDGEN:461191",
          "MESH:C536326",
          "OMIM:173900",
          "SCTID:253878003",
          "UMLS:C3149841"
        ],
        "synonyms": [
          "APKD1",
          "PKD1",
          "PKD1 autosomal dominant polycystic kidney disease",
          "autosomal dominant polycystic kidney disease caused by mutation in PKD1",
          "polycystic kidney disease 1",
          "polycystic kidney disease type 1",
          "Potter type 3 polycystic kidney disease",
          "Potter type 3 polycystic kidney disease, formerly",
          "polycystic kidney disease 1 with or without polycystic liver disease",
          "polycystic kidney disease, adult",
          "polycystic kidney disease, adult, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008263"
    },
    {
      "id": 12049,
      "label": "polycystic kidney disease 3 with or without polycystic liver disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110860",
          "GARD:0018598",
          "MEDGEN:854672",
          "OMIM:600666",
          "UMLS:C3887964"
        ],
        "synonyms": [
          "APKD3",
          "Apkd3",
          "GANAB autosomal dominant polycystic kidney disease",
          "PKD3",
          "Pkd3",
          "autosomal dominant polycystic kidney disease caused by mutation in GANAB",
          "polycystic kidney disease 3 with or without polycystic liver disease",
          "polycystic kidney disease 3, autosomal dominant",
          "polycystic kidney disease type 3",
          "polycystic kidney disease, adult, type 3",
          "polycystic kidney disease, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010916"
    },
    {
      "id": 14168,
      "label": "polycystic kidney disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110859",
          "GARD:0018599",
          "MEDGEN:442699",
          "NCIT:C123166",
          "OMIM:613095",
          "SCTID:253879006",
          "UMLS:C2751306"
        ],
        "synonyms": [
          "APKD2",
          "Autosomal dominant polycystic kidney disease type 2",
          "PKD2",
          "PKD2 autosomal dominant polycystic kidney disease",
          "autosomal dominant polycystic kidney disease caused by mutation in PKD2",
          "polycystic kidney disease 2",
          "polycystic kidney disease type 2",
          "polycystic kidney disease 2 with or without polycystic liver disease",
          "polycystic kidney disease, adult, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013131"
    },
    {
      "id": 22216,
      "label": "polycystic kidney disease 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060952",
          "GARD:0025690",
          "MEDGEN:1823995",
          "OMIM:620056",
          "UMLS:C5774222"
        ],
        "synonyms": [
          "PKD7",
          "polycystic kidney disease 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031062"
    },
    {
      "id": 23641,
      "label": "polycystic kidney disease 6 with or without polycystic liver disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060951",
          "GARD:0025984",
          "MEDGEN:1648469",
          "OMIM:618061",
          "UMLS:C4748044"
        ],
        "synonyms": [
          "DNAJB11 polycystic kidney disease",
          "polycystic kidney disease 6 with or without polycystic liver disease",
          "polycystic kidney disease caused by mutation in DNAJB11",
          "PKD6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0054842"
    },
    {
      "id": 24398,
      "label": "ALG9-associated autosomal dominant polycystic kidney disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026304"
        ],
        "synonyms": [
          "ALG9 autosomal dominant polycystic kidney disease",
          "ALG9 related autosomal dominant polycystic kidney disease",
          "ALG9-associated ADPKD",
          "ALG9-associated autosomal dominant polycystic kidney disease",
          "Autosomal Dominant Polycystic Kidney Disease - ALG9",
          "autosomal dominant polycystic kidney disease caused by mutation in ALG9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700000"
    },
    {
      "id": 26085,
      "label": "polycystic kidney disease 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027211",
          "MEDGEN:1854762",
          "OMIM:620903",
          "UMLS:C5935640"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971178"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 20057,
      "label": "polycystic kidney disease"
    }
  ]
}