{
  "id": 25232,
  "label": "EZB diffuse large B-cell lymphoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0850469",
  "properties": {
    "xrefs": [
      "DOID:0081065",
      "GARD:0026624",
      "MEDGEN:1653316",
      "NCIT:C148398",
      "UMLS:C4725006"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18833,
      "label": "diffuse large B-cell lymphoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6694,
        17875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050745",
          "EFO:0000403",
          "GARD:0003178",
          "ICD10CM:C83.3",
          "ICD9:200.7",
          "ICDO:9680/3",
          "MEDGEN:86954",
          "MESH:D016403",
          "MedDRA:10012818",
          "NCIT:C8851",
          "Orphanet:544",
          "UMLS:C0079744",
          "icd11.foundation:1946973604"
        ],
        "synonyms": [
          "DLBCL",
          "diffuse large B-cell lymphoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common."
      },
      "child_count": 60,
      "reference_id": "MONDO:0018905"
    }
  ],
  "children": [
    {
      "id": 25580,
      "label": "EZB-MYC+ diffuse large B-cell lymphoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081070",
          "GARD:0026775"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0956987"
    },
    {
      "id": 25581,
      "label": "EZB-MYC- diffuse large B-cell lymphoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081071",
          "GARD:0026776"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0956988"
    }
  ],
  "roots": [
    {
      "id": 18833,
      "label": "diffuse large B-cell lymphoma"
    }
  ]
}