{
  "id": 11991,
  "label": "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010856",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825967",
          "Orphanet:261956",
          "UMLS:C5679670",
          "icd11.foundation:934406879"
        ],
        "synonyms": [
          "partial deletion of chromosome 16p",
          "partial deletion of the short arm of chromosome type 16",
          "partial monosomy of chromosome 16p",
          "partial monosomy of the short arm of chromosome 16"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016894"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16"
    },
    {
      "id": 19499,
      "label": "familial cystic renal disease"
    }
  ]
}