{
  "id": 16453,
  "label": "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015688",
  "properties": {
    "xrefs": [
      "DOID:0080164",
      "GARD:0020105",
      "MEDGEN:417664",
      "NCIT:C84270",
      "Orphanet:168943",
      "UMLS:C2827356"
    ],
    "synonyms": [
      "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1",
      "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1",
      "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2",
      "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",
      "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement",
      "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16513,
      "label": "myeloid hemopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4440
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020130",
          "MEDGEN:1842523",
          "Orphanet:171895",
          "UMLS:C5680514"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015756"
    },
    {
      "id": 23467,
      "label": "hematopoietic and lymphoid cell neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4440
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025916",
          "MEDGEN:91264",
          "NCIT:C27134",
          "UMLS:C0376544"
        ],
        "synonyms": [
          "HEMOLYMPHORETICULAR tumor, malignant",
          "haematological neoplasm",
          "haematological tumour",
          "haematopoietic and lymphoid neoplasms",
          "haematopoietic cancer",
          "haematopoietic cell tumour",
          "haematopoietic malignancy, NOS",
          "haematopoietic neoplasm",
          "haematopoietic neoplasms including lymphomas",
          "haematopoietic tumour",
          "hematologic cancer",
          "hematologic malignancy",
          "hematologic neoplasm",
          "hematological neoplasm",
          "hematological tumor",
          "hematopoietic and lymphoid cell neoplasm",
          "hematopoietic and lymphoid neoplasms",
          "hematopoietic cancer",
          "hematopoietic cell tumor",
          "hematopoietic malignancy, NOS",
          "hematopoietic neoplasm",
          "hematopoietic neoplasms including lymphomas",
          "hematopoietic tumor",
          "hematopoietic, Including myeloma",
          "malignant haematopoietic neoplasm",
          "malignant hematologic neoplasm",
          "malignant hematopoietic neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0044881"
    }
  ],
  "children": [
    {
      "id": 14331,
      "label": "myeloid neoplasm associated with FGFR1 rearrangement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080167",
          "GARD:0017043",
          "ICDO:9967/3",
          "MEDGEN:462123",
          "NCIT:C84277",
          "OMIM:613523",
          "ONCOTREE:MLNFGFR1",
          "Orphanet:168953",
          "UMLS:C3150773",
          "icd11.foundation:2019647878"
        ],
        "synonyms": [
          "8p11 myeloproliferative syndrome",
          "8p11 stem cell leukemia/lymphoma syndrome",
          "8p11 stem cell syndrome",
          "chromosome 8p11 myeloproliferative syndrome",
          "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities",
          "myeloid and lymphoid neoplasms with FGFR1 rearrangement",
          "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement",
          "myeloid/lymphoid neoplasms with FGFR1 rearrangement",
          "stem cell leukemia/lymphoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013296"
    },
    {
      "id": 16454,
      "label": "myeloid neoplasm associated with PDGFRA rearrangement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080165",
          "GARD:0020106",
          "ICDO:9965/3",
          "MEDGEN:1620600",
          "NCIT:C84275",
          "ONCOTREE:MLNPDGFRA",
          "Orphanet:168947",
          "SCTID:738527001",
          "UMLS:C4545381",
          "icd11.foundation:833355630"
        ],
        "synonyms": [
          "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement",
          "myeloid and lymphoid neoplasms with PDGFRA rearrangement",
          "myeloid/lymphoid neoplasms with PDGFRA rearrangement",
          "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015689"
    },
    {
      "id": 16455,
      "label": "myeloid neoplasm associated with PDGFRB rearrangement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080166",
          "GARD:0020107",
          "ICDO:9966/3",
          "MEDGEN:758646",
          "NCIT:C84276",
          "ONCOTREE:MLNPDGFRB",
          "Orphanet:168950",
          "SCTID:724642009",
          "UMLS:C3472621",
          "icd11.foundation:625932159"
        ],
        "synonyms": [
          "myeloid and lymphoid neoplasms with PDGFRB rearrangement",
          "myeloid neoplasms associated with PDGFRB rearrangement",
          "myeloid neoplasms with PDGFRB rearrangement",
          "myeloid/lymphoid neoplasms with PDGFRB rearrangement",
          "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015690"
    },
    {
      "id": 22801,
      "label": "myeloid/lymphoid neoplasm associated with JAK2 rearrangement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022355",
          "MEDGEN:1689091",
          "NCIT:C129853",
          "Orphanet:589542",
          "UMLS:C5229383"
        ],
        "synonyms": [
          "myeloid/lymphoid neoplasms with PCM1-JAK2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035121"
    }
  ],
  "roots": [
    {
      "id": 16513,
      "label": "myeloid hemopathy"
    },
    {
      "id": 23467,
      "label": "hematopoietic and lymphoid cell neoplasm"
    }
  ]
}