{
  "id": 9945,
  "label": "von Willebrand disease 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008668",
  "properties": {
    "xrefs": [
      "DOID:0060573",
      "GARD:0017019",
      "MEDGEN:220393",
      "MESH:D056725",
      "NCIT:C131685",
      "OMIM:193400",
      "Orphanet:166078",
      "SCTID:128106003",
      "UMLS:C1264039"
    ],
    "synonyms": [
      "VWD1",
      "von Willebrand disease 1",
      "von Willebrand disease type 1",
      "von Willebrand's disease type 1",
      "von willebrand's disease 1",
      "VON WILLEBRAND disease, type 1",
      "VWD, type 1",
      "Von Willebrand disease, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19371,
      "label": "hereditary von Willebrand disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4360,
        20411,
        21519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12531",
          "MEDGEN:1814986",
          "MESH:C531844",
          "MedDRA:10047715",
          "Orphanet:903",
          "SCTID:234446004",
          "UMLS:C5703318",
          "icd11.foundation:2112021600"
        ],
        "synonyms": [
          "vascular haemophilia",
          "vascular hemophilia",
          "von Willebrand disease",
          "von Willebrand disorder",
          "von Willebrand's-Jurgens' disease",
          "von Willebrand-Jurgens disease",
          "congenital von willebrand's disease",
          "hereditary von Willebrand disease",
          "hereditary von Willebrand disease (hereditary or acquired)",
          "congenital von willebrand disease",
          "von Willebrand's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019565"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19371,
      "label": "hereditary von Willebrand disease"
    }
  ]
}