{
  "id": 14339,
  "label": "von Willebrand disease 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013304",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": [
    {
      "id": 16415,
      "label": "von Willebrand disease type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017021",
          "MEDGEN:220920",
          "NCIT:C131686",
          "Orphanet:166084",
          "SCTID:359714009",
          "UMLS:C1282968",
          "icd11.foundation:1009291548"
        ],
        "synonyms": [
          "von Willebrand disease, type 2A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015628"
    },
    {
      "id": 16416,
      "label": "von Willebrand disease type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14339
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015629"
    },
    {
      "id": 16417,
      "label": "von Willebrand disease type 2M",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017023",
          "MEDGEN:266186",
          "NCIT:C131688",
          "Orphanet:166090",
          "SCTID:359725000",
          "SCTID:359729006",
          "UMLS:C1282974",
          "icd11.foundation:1358085002"
        ],
        "synonyms": [
          "von Willebrand disease, type 2M"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015630"
    },
    {
      "id": 16418,
      "label": "von Willebrand disease type 2N",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017024",
          "MEDGEN:266187",
          "NCIT:C131689",
          "Orphanet:166093",
          "SCTID:359732009",
          "UMLS:C1282975",
          "icd11.foundation:1091176565"
        ],
        "synonyms": [
          "von Willebrand disease Normandy variant",
          "von Willebrand disease, type 2N"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015631"
    }
  ],
  "roots": [
    {
      "id": 19371,
      "label": "hereditary von Willebrand disease"
    }
  ]
}