{
  "id": 25924,
  "label": "TFEB-rearranged renal cell carcinoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958302",
  "properties": {
    "xrefs": [
      "DOID:0081414",
      "GARD:0027004",
      "MEDGEN:1664261",
      "UMLS:C4745249"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18099,
      "label": "MIT family translocation renal cell carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081413",
          "GARD:0017446",
          "MEDGEN:1376834",
          "NCIT:C154494",
          "Orphanet:319308",
          "SCTID:764694005",
          "UMLS:C4518356"
        ],
        "synonyms": [
          "carcinoma associated with MITF/TFE translocation",
          "translocation renal cell carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017886"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18099,
      "label": "MIT family translocation renal cell carcinoma"
    }
  ]
}