{
  "id": 24150,
  "label": "acute myeloid leukemia, PTPN11 gene mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100423",
  "properties": {
    "xrefs": [
      "GARD:0026206"
    ],
    "synonyms": [
      "AML, BPTP3 Gene Mutation",
      "AML, PTP-1D Gene Mutation",
      "AML, PTP2C Gene Mutation",
      "AML, PTPN11 gene mutation",
      "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation",
      "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation",
      "AML, SH-PTP2 Gene Mutation",
      "AML, SHP-2 Gene Mutation",
      "AML, SHP2 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 PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)"
  },
  "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"
    }
  ]
}