{
  "id": 23835,
  "label": "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100083",
  "properties": {
    "xrefs": [
      "GARD:0015329",
      "MEDGEN:321945",
      "NANDO:2200662",
      "NCIT:C151903",
      "NORD:1943",
      "OMIM:601399",
      "UMLS:C1832388"
    ],
    "synonyms": [
      "FPD/AML syndrome",
      "FPS/AML syndrome",
      "Familial Platelet Disorder with Associated Myeloid Malignancy",
      "familial platelet disorder with associated myeloid malignancy",
      "familial platelet syndrome with predisposition to acute myelogenous leukaemia",
      "familial platelet syndrome with predisposition to acute myelogenous leukemia",
      "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1",
      "FPDMM",
      "asprin-like platelet disorder",
      "familial thrombocytopenia with propensity to acute myelogenous leukaemia",
      "familial thrombocytopenia with propensity to acute myelogenous leukemia",
      "platelet disorder, aspirin-like",
      "platelet disorder, familial, with associated myeloid malignancy",
      "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia",
      "thrombocytopenia, familial, with propensity to acute myelogenous leukemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12197,
      "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010352",
          "MESH:C563324",
          "NCIT:C162696",
          "Orphanet:71290",
          "SCTID:725034002"
        ],
        "synonyms": [
          "hereditary thrombocytopenia and hematologic cancer predisposition syndrome",
          "familial platelet syndrome with predisposition to acute myelogenous leukaemia",
          "familial thrombocytopenia with propensity to acute myelogenous leukaemia",
          "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12197,
      "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome"
    }
  ]
}