{
  "id": 18099,
  "label": "MIT family translocation renal cell carcinoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017886",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6814,
      "label": "renal cell carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6712,
        6923
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4450",
          "EFO:0000681",
          "GARD:0013215",
          "HP:0005584",
          "ICD9:189.0",
          "MEDGEN:766",
          "MESH:D002292",
          "MedDRA:10067946",
          "NANDO:2200045",
          "NORD:1657",
          "ONCOTREE:RCC",
          "Orphanet:217071",
          "SCTID:702391001",
          "UMLS:C0007134"
        ],
        "synonyms": [
          "RCC",
          "renal cell carcinoma",
          "renal cell carcinoma (disease)",
          "kidney adenocarcinoma",
          "renal cell adenocarcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A carcinoma that arises from glandular epithelial cells of the kidney"
      },
      "child_count": 22,
      "reference_id": "MONDO:0005086"
    }
  ],
  "children": [
    {
      "id": 11615,
      "label": "renal cell carcinoma, Xp11-associated",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5006,
        18099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018445",
          "MEDGEN:477077",
          "OMIM:300854",
          "UMLS:C3275446"
        ],
        "synonyms": [
          "renal cell carcinoma, Xp11-associated",
          "renal cell carcinoma, papillary, 1",
          "RCCX1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010456"
    },
    {
      "id": 25924,
      "label": "TFEB-rearranged renal cell carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18099
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958302"
    },
    {
      "id": 25925,
      "label": "childhood renal cell carcinoma with MiT translocations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081416",
          "GARD:0027005",
          "MEDGEN:1817233",
          "UMLS:C5708328"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958303"
    }
  ],
  "roots": [
    {
      "id": 6814,
      "label": "renal cell carcinoma"
    }
  ]
}