{
  "id": 23980,
  "label": "inherited thrombophilia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100240",
  "properties": {
    "xrefs": [
      "GARD:0026094",
      "MEDGEN:391721",
      "OMIMPS:188050",
      "UMLS:C2584620"
    ],
    "synonyms": [
      "hereditary hypercoagulable disorder",
      "hereditary thrombophilia",
      "thrombophilia, hereditary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An instance of thrombophilia that is inherited."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 4413,
      "label": "thrombophilia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2452",
          "EFO:0009315",
          "GARD:0023114",
          "ICD9:286.9",
          "MEDGEN:98306",
          "MESH:D019851",
          "NCIT:C84479",
          "Orphanet:64738",
          "SCTID:234467004",
          "UMLS:C0398623",
          "icd11.foundation:1733531851"
        ],
        "synonyms": [
          "excessive blood clotting",
          "hypercoagulability",
          "hypercoagulability state",
          "hypercoagulable"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0002305"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8965,
      "label": "factor 5 excess with spontaneous thrombosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024564",
          "MEDGEN:341996",
          "MESH:C565026",
          "OMIM:134400",
          "UMLS:C1851378"
        ],
        "synonyms": [
          "Proaccelerin Excess",
          "factor V excess with spontaneous thrombosis",
          "thrombophilia with elevated Factor 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007594"
    },
    {
      "id": 9846,
      "label": "thrombophilia due to thrombin defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080701",
          "DOID:0111907",
          "GARD:0010815",
          "ICD9:453.9",
          "MEDGEN:463623",
          "OMIM:188050",
          "SCTID:111293003",
          "UMLS:C3160733"
        ],
        "synonyms": [
          "Venous thromboembolism",
          "prothrombin thrombophilia",
          "prothrombin-related thrombophilia",
          "thrombophilia 1 due to thrombin defect",
          "thrombophilia due to thrombin defect",
          "venous thromboembolism, susceptibility to",
          "venous thrombosis, protection against",
          "THPH1",
          "factor II-related thrombophilia",
          "hyperprothrombinemia",
          "prothrombin 20210G>A thrombophilia",
          "prothrombin G20210A thrombophilia",
          "thromboembolism, susceptibility to",
          "thrombophilia due to factor 2 defect",
          "thrombosis, protection against",
          "venous thrombosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The formation of a blood clot (thrombus) in the lumen of a vein."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008559"
    },
    {
      "id": 9847,
      "label": "thrombophilia due to activated protein C resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4359,
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111902",
          "GARD:0024631",
          "ICD9:289.81",
          "MEDGEN:396074",
          "MESH:D020016",
          "OMIM:188055",
          "SCTID:421527008",
          "UMLS:C1861171"
        ],
        "synonyms": [
          "thrombophilia 2 due to activated protein C resistance",
          "thrombophilia due to activated protein C resistance",
          "APC resistance",
          "Activated Protein C resistance",
          "Pccf deficiency",
          "Proc cofactor deficiency",
          "THPH2",
          "resistance, APC",
          "thrombophilia 5",
          "thrombophilia due to ACTIVATED PROTEIN C resistance",
          "thrombophilia due to Factor 5 Leiden",
          "thrombophilia due to deficiency of Activated Protein C cofactor",
          "thrombophilia, susceptibility to, due to factor V Leiden"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008560"
    },
    {
      "id": 11592,
      "label": "thrombophilia, X-linked, due to factor 9 defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111899",
          "GARD:0024725",
          "MEDGEN:411730",
          "MESH:C567581",
          "OMIM:300807",
          "UMLS:C2749016"
        ],
        "synonyms": [
          "deep venous thrombosis, protection against, X-linked recessive",
          "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive",
          "thrombophilia, X-linked, due to factor 9 defect",
          "thrombophilia, X-linked, due to factor IX defect",
          "THPH8",
          "deep Venous thrombosis, protection against"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010432"
    },
    {
      "id": 13912,
      "label": "thrombophilia, familial, due to decreased release of tissue plasminogen activator",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111906",
          "GARD:0024894",
          "MEDGEN:393574",
          "MESH:C567341",
          "OMIM:612348",
          "UMLS:C2676721"
        ],
        "synonyms": [
          "THPH9",
          "hyperfibrinolysis, familial, due to increased release of plat",
          "thrombophilia, familial, due to decreased release of PLAT",
          "thrombophilia, familial, due to decreased release of tissue plasminogen activator",
          "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012872"
    },
    {
      "id": 13916,
      "label": "heparin cofactor 2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111901",
          "GARD:0024895",
          "ICD9:286.3",
          "MEDGEN:96017",
          "MESH:C562865",
          "OMIM:612356",
          "SCTID:234468009",
          "UMLS:C0398626"
        ],
        "synonyms": [
          "heparin cofactor 2 deficiency",
          "thrombophilia 10 due to heparin cofactor II deficiency",
          "Hcf 2 deficiency",
          "Hcf2 deficiency",
          "heparin cofactor II deficiency",
          "thrombophilia due to heparin cofactor 2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012876"
    },
    {
      "id": 14179,
      "label": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18454,
        18462,
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111903",
          "GARD:0017125",
          "MEDGEN:416465",
          "MESH:C567737",
          "OMIM:613116",
          "Orphanet:217467",
          "UMLS:C2751090",
          "icd11.foundation:1764310021"
        ],
        "synonyms": [
          "hereditary thrombophilia due to congenital HRG deficiency",
          "thrombophilia 11 due to HRG deficiency",
          "THPH11",
          "thrombophilia due to elevated histidine-rich glycoprotein",
          "thrombophilia due to histidine-rich glycoprotein deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013143"
    },
    {
      "id": 14180,
      "label": "hereditary antithrombin deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18454,
        18462,
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3755",
          "GARD:0006148",
          "ICD9:286.9",
          "MEDGEN:75781",
          "MESH:D020152",
          "NORD:791",
          "OMIM:613118",
          "Orphanet:82",
          "SCTID:36351005",
          "UMLS:C0272375"
        ],
        "synonyms": [
          "AT3D",
          "Antithrombin Deficiency",
          "antithrombin 3 deficiency",
          "antithrombin III deficiency",
          "congenital AT-III deficiency",
          "congenital antithrombin III deficiency",
          "hereditary antithrombin deficiency",
          "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
          "hereditary thrombophilia due to congenital antithrombin deficiency",
          "inherited antithrombin deficiency",
          "thrombophilia 7 due to antithrombin III deficiency",
          "thrombophilia due to antithrombin 3 deficiency",
          "thrombophilia due to antithrombin III deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013144"
    },
    {
      "id": 14793,
      "label": "thrombomodulin-related bleeding disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4359,
        4360,
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111908",
          "GARD:0017726",
          "MEDGEN:482606",
          "MESH:C566057",
          "OMIM:614486",
          "Orphanet:436169",
          "UMLS:C3280976"
        ],
        "synonyms": [
          "THBD-related bleeding disorder",
          "THBD-related coagulopathy",
          "thrombomodulin-related coagulopathy",
          "thrombophilia 12 due to thrombomodulin defect",
          "THPH12",
          "thrombophilia due to thrombomodulin defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013775"
    },
    {
      "id": 19022,
      "label": "hereditary thrombophilia due to congenital protein S deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4412,
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111905",
          "GARD:0016543",
          "MEDGEN:748876",
          "Orphanet:743",
          "UMLS:C2584611",
          "icd11.foundation:1305244529"
        ],
        "synonyms": [
          "autosomal recessive thrombophilia due to congenital protein S deficiency",
          "hereditary thrombophilia due to congenital protein S deficiency",
          "severe hereditary thrombophilia due to congenital protein S deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019144"
    },
    {
      "id": 19023,
      "label": "hereditary thrombophilia due to congenital protein C deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3756",
          "GARD:0016544",
          "MEDGEN:671121",
          "MESH:C535424",
          "MESH:D020151",
          "NANDO:1201080",
          "NANDO:2100197",
          "NANDO:2200689",
          "NCIT:C99025",
          "NORD:1899",
          "Orphanet:745",
          "SCTID:76407009",
          "UMLS:C0598221",
          "icd11.foundation:2021932081"
        ],
        "synonyms": [
          "Protein C Deficiency",
          "Protein C deficiency",
          "Protein C deficiency disease",
          "hereditary thrombophilia due to congenital protein C deficiency",
          "protein C deficiency",
          "severe hereditary thrombophilia due to congenital protein C deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019145"
    },
    {
      "id": 25280,
      "label": "thrombophilia, X-linked, due to factor 8 defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026654",
          "MEDGEN:1805414",
          "OMIM:301071",
          "UMLS:C5676879"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859082"
    }
  ],
  "roots": [
    {
      "id": 4413,
      "label": "thrombophilia"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}