{
  "id": 19371,
  "label": "hereditary von Willebrand disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019565",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4360,
      "label": "hemorrhagic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2213",
          "ICD9:287.9",
          "MEDGEN:6799",
          "MESH:D006474",
          "NCIT:C115221",
          "UMLS:C0019087"
        ],
        "synonyms": [
          "bleeding diathesis",
          "bleeding disorder",
          "bleeding predisposition",
          "bleeding tendency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002243"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    },
    {
      "id": 21519,
      "label": "von Willebrand disease (hereditary or acquired)",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4359
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025434",
          "ICD10CM:D68.0",
          "ICD9:286.4",
          "MEDGEN:22686",
          "MESH:D014842",
          "NANDO:2200682",
          "NCIT:C68677",
          "SCTID:128105004",
          "UMLS:C0042974"
        ],
        "synonyms": [
          "VWD",
          "Von Willebrand Disease",
          "von Willebrand disorder",
          "von Willebrand's disease",
          "von Willebrand disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding."
      },
      "child_count": 2,
      "reference_id": "MONDO:0024574"
    }
  ],
  "children": [
    {
      "id": 9636,
      "label": "platelet-type von Willebrand disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        19371
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111056",
          "GARD:0008312",
          "MEDGEN:226914",
          "MESH:C536458",
          "NANDO:2200668",
          "NCIT:C131681",
          "OMIM:177820",
          "Orphanet:52530",
          "UMLS:C1280798"
        ],
        "synonyms": [
          "BDPLT3",
          "PT-VWD",
          "platelet type-von Willebrand disease",
          "platelet-type von Willebrand disease",
          "pseudo-von Willebrand disease",
          "pseudo-von Willebrand disease type 2B",
          "VWDP",
          "Von Willebrand disease, Platelet-type",
          "Von Willebrand disease, platelet type",
          "bleeding disorder, Platelet-type, 3",
          "platelet-type bleeding disorder 3",
          "pseudo-VON WILLEBRAND disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008332"
    },
    {
      "id": 9945,
      "label": "von Willebrand disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19371
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008668"
    },
    {
      "id": 11373,
      "label": "von Willebrand disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19371
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010191"
    },
    {
      "id": 11896,
      "label": "Von Willebrand disease, X-linked form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19371
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024753",
          "MEDGEN:333255",
          "MESH:C564041",
          "OMIM:314560",
          "UMLS:C1839113"
        ],
        "synonyms": [
          "Von Willebrand disease, X-linked form",
          "Von Willebrand disease, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010756"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    },
    {
      "id": 21519,
      "label": "von Willebrand disease (hereditary or acquired)"
    }
  ]
}