{
  "id": 11092,
  "label": "autosomal recessive polycystic kidney disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009889",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 22595,
      "label": "polycystic kidney disease 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080212",
          "GARD:0006168",
          "MEDGEN:1621793",
          "OMIM:263200",
          "UMLS:C4540575"
        ],
        "synonyms": [
          "polycystic kidney disease 4, with or without hepatic disease",
          "PKD3",
          "PKD3, formerly",
          "PKD4",
          "hepatic fibrosis, congenital",
          "polycystic kidney and hepatic disease 1",
          "polycystic kidney disease 4 with or without hepatic disease",
          "polycystic kidney disease 4 with or without polycystic liver disease",
          "polycystic kidney disease, autosomal recessive",
          "polycystic kidney disease, infantile, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033004"
    },
    {
      "id": 22633,
      "label": "polycystic kidney disease 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080273",
          "GARD:0016242",
          "MEDGEN:1624679",
          "OMIM:617610",
          "UMLS:C4539903"
        ],
        "synonyms": [
          "DZIP1L polycystic kidney disease",
          "polycystic kidney disease 5",
          "polycystic kidney disease caused by mutation in DZIP1L",
          "PKD5"
        ],
        "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 DZIP1L gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033281"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 20057,
      "label": "polycystic kidney disease"
    }
  ]
}