{
  "id": 16416,
  "label": "von Willebrand disease type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015629",
  "properties": {
    "xrefs": [
      "GARD:0017022",
      "MEDGEN:224831",
      "NCIT:C131687",
      "Orphanet:166087",
      "SCTID:359717002",
      "SCTID:359721009",
      "UMLS:C1282971",
      "icd11.foundation:1383884415"
    ],
    "synonyms": [
      "von Willebrand disease type 2B",
      "von Willebrand disease, type 2B"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14339,
      "label": "von Willebrand disease 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19371
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060574",
          "GARD:0017020",
          "MEDGEN:224736",
          "MESH:D056728",
          "OMIM:613554",
          "Orphanet:166081",
          "SCTID:128107007",
          "UMLS:C1264040"
        ],
        "synonyms": [
          "VWD2",
          "von Willebrand disease 2",
          "von Willebrand disease type 2",
          "von Willebrand disease, types 2A, 2B, 2M, and 2N",
          "von Willebrand's disease type 2",
          "von willebrand's disease 2",
          "VON WILLEBRAND disease, type 2",
          "VWD, type 2",
          "Von Willebrand disease, type 2",
          "Von Willebrand disease, type 2A",
          "Von Willebrand disease, type 2B",
          "Von Willebrand disease, type 2M",
          "Von Willebrand disease, type 2N"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013304"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14339,
      "label": "von Willebrand disease 2"
    }
  ]
}