{
  "id": 15535,
  "label": "thrombocytopenia 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014536",
  "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."
  },
  "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"
    },
    {
      "id": 23981,
      "label": "inherited thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4196,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026095",
          "OMIMPS:313900"
        ],
        "synonyms": [
          "hereditary thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of thrombocytopenia that is inherited."
      },
      "child_count": 42,
      "reference_id": "MONDO:0100241"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12197,
      "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome"
    },
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}