{
  "id": 18485,
  "label": "acute myeloid leukemia with NPM1 somatic mutations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018437",
  "properties": {
    "xrefs": [
      "GARD:0021713",
      "MEDGEN:1633725",
      "Orphanet:402026",
      "SCTID:763309005",
      "UMLS:C4706386"
    ],
    "synonyms": [
      "AML with NPM1 somatic mutations"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18806,
      "label": "acute myeloid leukemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6429,
        11789
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9119",
          "EFO:0000222",
          "GARD:0012757",
          "ICD10CM:C92.0",
          "ICD9:205.0",
          "ICD9:205.00",
          "ICDO:9861/3",
          "MEDGEN:9730",
          "MESH:D015470",
          "MedDRA:10000880",
          "NCIT:C3171",
          "NORD:1905",
          "OMIM:601626",
          "ONCOTREE:AML",
          "Orphanet:519",
          "SCTID:91861009",
          "UMLS:C0023467"
        ],
        "synonyms": [
          "AML",
          "AML - acute myeloid leukaemia",
          "AML - acute myeloid leukemia",
          "ANLL",
          "acute Nonlymphocytic leukaemia",
          "acute Nonlymphocytic leukemia",
          "acute granulocytic leukaemia",
          "acute granulocytic leukemia",
          "acute myeloblastic leukemia",
          "acute myelocytic leukaemia",
          "acute myelocytic leukemia",
          "acute myelogenous leukemia",
          "acute myelogenous leukemias",
          "acute myeloid leukaemia (AML)",
          "acute myeloid leukemia",
          "acute myeloid leukemia (AML)",
          "acute myeloid leukemia, somatic",
          "acute nonlymphocytic leukaemia",
          "acute nonlymphocytic leukemia",
          "hematopoeitic - acute Myleogenous leukaemia (AML)",
          "hematopoeitic - acute Myleogenous leukemia (AML)",
          "leukemia, acute myeloid, autosomal dominant, somatic mutation",
          "leukemia, acute myeloid, reduced survival in, somatic",
          "leukemia, acute myeloid, somatic",
          "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation",
          "leukemia, myelocytic, acute",
          "myeloid leukemia, acute",
          "myeloid leukemia, acute, M4/M4Eo subtype, somatic",
          "acute non lymphoblastic leukaemia",
          "acute non lymphoblastic leukemia",
          "leukemia, acute myelogenous",
          "leukemia, acute myeloid",
          "leukemia, acute myeloid, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections."
      },
      "child_count": 156,
      "reference_id": "MONDO:0018874"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18806,
      "label": "acute myeloid leukemia"
    }
  ]
}