{
  "id": 7917,
  "label": "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006397",
  "properties": {
    "xrefs": [
      "DOID:0081415",
      "EFO:1000508",
      "GARD:0024396",
      "ICDO:0000/0",
      "MEDGEN:235005",
      "NCIT:C27891",
      "ONCOTREE:TRCC",
      "UMLS:C1337036"
    ],
    "synonyms": [
      "TFE3-Rearranged renal cell carcinoma",
      "Xp11.2 translocation-related renal cell carcinoma",
      "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions",
      "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions",
      "tRCC",
      "translocation-associated renal cell carcinoma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7199,
      "label": "renal cell adenocarcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005708",
          "GARD:0024205",
          "ICDO:8311/1",
          "ICDO:8312/3",
          "NANDO:2200045",
          "NCIT:C9385"
        ],
        "synonyms": [
          "renal cell carcinoma",
          "RCC",
          "adenocarcinoma of kidney",
          "adenocarcinoma of the kidney",
          "carcinoma, renal cell, malignant",
          "kidney adenocarcinoma",
          "renal cell adenocarcinoma",
          "renal cell cancer",
          "renal cell carcinoma, stage unspecified"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy."
      },
      "child_count": 9,
      "reference_id": "MONDO:0005549"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7199,
      "label": "renal cell adenocarcinoma"
    }
  ]
}