{
  "id": 16454,
  "label": "myeloid neoplasm associated with PDGFRA rearrangement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015689",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16453,
      "label": "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16513,
        23467
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015688"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16453,
      "label": "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2"
    }
  ]
}