{
  "id": 12197,
  "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011071",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    }
  ],
  "children": [
    {
      "id": 15535,
      "label": "thrombocytopenia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12197,
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025000",
          "MEDGEN:863974",
          "NCIT:C203436",
          "OMIM:616216",
          "UMLS:C4015537"
        ],
        "synonyms": [
          "ETV6 thrombocytopenia",
          "thrombocytopenia 5",
          "thrombocytopenia caused by mutation in ETV6",
          "thrombocytopenia type 5",
          "THC5",
          "thrombocytopenia 5 with increased susceptibility to malignancy",
          "thrombocytopenia, autosomal dominant, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014536"
    },
    {
      "id": 23835,
      "label": "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12197
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100083"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}