{
  "id": 11373,
  "label": "von Willebrand disease 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010191",
  "properties": {
    "xrefs": [
      "DOID:0111054",
      "GARD:0017025",
      "MEDGEN:266075",
      "MESH:D056729",
      "NCIT:C85213",
      "OMIM:277480",
      "Orphanet:166096",
      "SCTID:128108002",
      "UMLS:C1264041"
    ],
    "synonyms": [
      "VWD3",
      "von Willebrand disease 3",
      "von Willebrand disease type 3",
      "von Willebrand's disease 3",
      "von Willebrand's disease type 3",
      "VON WILLEBRAND disease, type 3",
      "VWD, type 3",
      "Von Willebrand disease, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)."
  },
  "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"
    }
  ]
}