{
  "id": 13067,
  "label": "chronic myelogenous leukemia, BCR-ABL1 positive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011996",
  "properties": {
    "xrefs": [
      "DOID:0081088",
      "DOID:8552",
      "EFO:0000339",
      "GARD:0006105",
      "ICD9:205.1",
      "ICDO:9863/3",
      "ICDO:9875/3",
      "MEDGEN:75993",
      "MedDRA:10009013",
      "NANDO:2200013",
      "NCIT:C3174",
      "OMIM:608232",
      "ONCOTREE:CML",
      "Orphanet:521",
      "UMLS:C0279543"
    ],
    "synonyms": [
      "BCR-ABL Positive chronic myelogenous leukaemia",
      "BCR-ABL Positive chronic myelogenous leukemia",
      "CML",
      "CML - chronic myelogenous leukaemia",
      "CML - chronic myelogenous leukemia",
      "chronic granulocytic leukemia",
      "chronic myelocytic leukaemia",
      "chronic myelocytic leukemia",
      "chronic myelogenous leukaemia (CML)",
      "chronic myelogenous leukemia",
      "chronic myelogenous leukemia (CML)",
      "chronic myelogenous leukemia, BCR-ABL1 Positive",
      "chronic myelogenous leukemias",
      "chronic myeloid leukemia",
      "hematopoeitic - chronic myelocytic leukaemia (CML)",
      "hematopoeitic - chronic myelocytic leukemia (CML)",
      "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation",
      "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic",
      "myeloid leukemia, chronic",
      "leukemia, chronic myelogenous",
      "leukemia, chronic myeloid",
      "leukemia, chronic myeloid, atypical"
    ],
    "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": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6429,
      "label": "myeloid leukemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6789,
        19727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8692",
          "GARD:0008226",
          "ICD10CM:C92",
          "ICD9:205",
          "ICD9:205.80",
          "ICD9:205.9",
          "ICD9:205.90",
          "ICDO:9860/3",
          "MEDGEN:7320",
          "MESH:D007951",
          "NCIT:C3172",
          "SCTID:188732008",
          "UMLS:C0023470"
        ],
        "synonyms": [
          "leukaemia granulocytic",
          "leukaemia myeloid",
          "leukemia granulocytic",
          "leukemia myelogenous",
          "leukemia myeloid",
          "leukemia, granulocytic, malignant",
          "myelocytic leukaemia",
          "myelocytic leukemia",
          "myelogenous leukaemia",
          "myelogenous leukemia",
          "myeloid leukemia",
          "non-lymphoblastic leukaemia",
          "non-lymphoblastic leukemia",
          "non-lymphocytic leukaemia",
          "non-lymphocytic leukemia"
        ],
        "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": "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia."
      },
      "child_count": 8,
      "reference_id": "MONDO:0004643"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 7683,
      "label": "blast phase chronic myelogenous leukemia, BCR-ABL1 positive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13067
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000131",
          "GARD:0024298",
          "MEDGEN:2281",
          "MESH:D001752",
          "NCIT:C9110",
          "SCTID:413656006",
          "UMLS:C0005699"
        ],
        "synonyms": [
          "blast crisis",
          "blast phase CML",
          "blast phase chronic granulocytic leukaemia",
          "blast phase chronic granulocytic leukemia",
          "blast phase chronic myelocytic leukaemia",
          "blast phase chronic myelocytic leukemia",
          "blast phase chronic myelogenous leukaemia",
          "blast phase chronic myelogenous leukemia",
          "blast phase chronic myeloid leukaemia",
          "blast phase chronic myeloid leukemia",
          "blastic phase CML",
          "blastic phase chronic granulocytic leukaemia",
          "blastic phase chronic granulocytic leukemia",
          "blastic phase chronic myelocytic leukaemia",
          "blastic phase chronic myelocytic leukemia",
          "blastic phase chronic myelogenous leukaemia",
          "blastic phase chronic myelogenous leukemia",
          "blastic phase chronic myeloid leukaemia",
          "blastic phase chronic myeloid leukemia",
          "blast crises",
          "blast phase",
          "blast phases",
          "crises, blast",
          "crisis, blast",
          "phase, blast",
          "phases, blast"
        ],
        "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": "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006115"
    },
    {
      "id": 11945,
      "label": "familial chronic myelocytic leukemia-like syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13067
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060761",
          "GARD:0010141",
          "MEDGEN:325075",
          "MESH:C536093",
          "OMIM:600080",
          "UMLS:C1838670"
        ],
        "synonyms": [
          "CML-like syndrome, familial",
          "myelocytic leukemia-like syndrome, familial, chronic"
        ],
        "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": "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010809"
    },
    {
      "id": 20528,
      "label": "leukemia, myeloid, accelerated-phase",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13067
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025315",
          "MEDGEN:6059",
          "MESH:D015465",
          "NCIT:C3173",
          "UMLS:C0023472"
        ],
        "synonyms": [
          "Accelerated Phase CML",
          "Accelerated Phase Chronic Granulocytic Leukaemia",
          "Accelerated Phase Chronic Granulocytic Leukemia",
          "Accelerated Phase Chronic Myelocytic Leukaemia",
          "Accelerated Phase Chronic Myelocytic Leukemia",
          "Accelerated Phase Chronic Myelogenous Leukaemia",
          "Accelerated Phase Chronic Myelogenous Leukemia",
          "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive",
          "Accelerated Phase Chronic Myeloid Leukaemia",
          "Accelerated Phase Chronic Myeloid Leukemia",
          "Accelerated phase chronic myeloid leukaemia",
          "Accelerated phase chronic myeloid leukemia",
          "Aggressive-Phase CML",
          "Aggressive-Phase Chronic Myelocytic Leukaemia",
          "Aggressive-Phase Chronic Myelocytic Leukemia",
          "Aggressive-Phase Chronic Myelogenous Leukaemia",
          "Aggressive-Phase Chronic Myelogenous Leukemia",
          "Aggressive-Phase Chronic Myeloid Leukaemia",
          "Aggressive-Phase Chronic Myeloid Leukemia",
          "CML ACCELERATED",
          "CML AGGRESSIVE",
          "Leukemia, Myelogenous, Aggressive Phase",
          "Leukemia, Myelogenous, Aggressive-Phase",
          "Leukemia, Myeloid, Accelerated Phase",
          "Leukemia, Myeloid, Accelerated-Phase",
          "Leukemia, Myeloid, Aggressive-Phase",
          "Myelogenous Leukemia, Chronic, Aggressive Phase",
          "Myelogenous Leukemia, Chronic, Aggressive-Phase",
          "Myeloid Leukemia, Chronic, Accelerated Phase",
          "Myeloid Leukemia, Chronic, Accelerated-Phase",
          "Myeloid Leukemia, Chronic, Aggressive Phase",
          "Myeloid Leukemia, Chronic, Aggressive-Phase"
        ],
        "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": "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021367"
    }
  ],
  "roots": [
    {
      "id": 6429,
      "label": "myeloid leukemia"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}