{
  "id": 18484,
  "label": "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018436",
  "properties": {
    "xrefs": [
      "GARD:0021712",
      "MEDGEN:1638466",
      "Orphanet:402023",
      "SCTID:763796007",
      "UMLS:C4706584"
    ],
    "synonyms": [
      "megakaryoblastic AML with t(1;22)(p13;q13)"
    ],
    "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": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease."
  },
  "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"
    }
  ]
}