{
  "id": 24147,
  "label": "acute myeloid leukemia, KIT gene mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100420",
  "properties": {
    "xrefs": [
      "GARD:0026203"
    ],
    "synonyms": [
      "AML, C-KIT Mutation",
      "AML, CD117 Gene Mutation",
      "AML, CD117 Mutation",
      "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation",
      "AML, KIT gene mutation",
      "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation",
      "AML, c-KIT Gene Mutation"
    ],
    "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": "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)"
  },
  "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"
    }
  ]
}