{
  "id": 19499,
  "label": "familial cystic renal disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019741",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4553,
      "label": "cystic kidney disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2975",
          "EFO:0008615",
          "ICD10CM:Q61",
          "ICD10WHO:Q61",
          "MEDGEN:854361",
          "MESH:D052177",
          "NANDO:2200172",
          "NCIT:C34750",
          "SCTID:722223000",
          "UMLS:C3887499"
        ],
        "synonyms": [
          "cystic renal disease",
          "kidney cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A congenital or acquired kidney disorder characterized by the presence of renal cysts."
      },
      "child_count": 4,
      "reference_id": "MONDO:0002473"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 11991,
      "label": "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17317,
        19499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009481",
          "MEDGEN:325000",
          "MESH:C536328",
          "OMIM:600273",
          "Orphanet:88924",
          "SCTID:765331004",
          "UMLS:C1838327",
          "icd11.foundation:1781576728"
        ],
        "synonyms": [
          "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome",
          "PKDTS",
          "chromosome 16P13.3 deletion syndrome, distal",
          "polycystic kidney disease, infantile severe, with tuberous sclerosis",
          "polycystic kidneys, severe infantile with tuberous sclerosis",
          "tuberous sclerosis polycystic kidney disease contiguous gene syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010856"
    },
    {
      "id": 17427,
      "label": "adult familial nephronophthisis-spastic quadriparesia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018777",
          "MEDGEN:1385988",
          "Orphanet:2666",
          "UMLS:C4518090"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017044"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4553,
      "label": "cystic kidney disease"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}