{ "id": 4360, "label": "hemorrhagic disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002243", "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)." }, "isLeaf": false, "isRoot": false, "child_count": 28, "parents": [ { "id": 7217, "label": "hematologic disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:74", "EFO:0005803", "GTR:AN1320635", "ICD10CM:D50-D89", "ICD9:280-289", "ICD9:289.8", "ICD9:289.9", "MEDGEN:5483", "MESH:D006402", "NANDO:1100006", "NANDO:2100175", "NCIT:C26323", "Orphanet:97992", "SCTID:414022008", "UMLS:C0018939" ], "synonyms": [ "blood disease", "blood disorder", "disease of hematopoietic system", "disease of the blood and blood-forming organs", "disease or disorder of haematopoietic system", "disease or disorder of hematopoietic system", "disorder of haematopoietic system", "disorder of hematopoietic system", "haematological disease", "haematological disorder", "haematological system disease", "haematopoietic disease", "haematopoietic system disease or disorder", "hematologic and lymphocytic disorder", "hematologic disorder", "hematological disease", "hematological disorder", "hematological system disease", "hematopoietic disease", "hematopoietic system disease", "hematopoietic system disease or disorder", "rare hematologic disease", "haematological disorders and malignancies", "hematological disorders and malignancies" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving the hematopoietic system." }, "child_count": 27, "reference_id": "MONDO:0005570" } ], "children": [ { "id": 2702, "label": "inherited bleeding disorder, platelet-type", "isLeaf": false, "isRoot": false, "parents": [ 4360, 4362, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2218", "GARD:0022702", "MEDGEN:610", "OMIMPS:231200", "UMLS:C0005818" ], "synonyms": [ "blood platelet disease", "platelet disorder", "bleeding disorder, platelet-type", "thrombocytopathy" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 84, "reference_id": "MONDO:0000009" }, { "id": 4361, "label": "factor VII deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0023098", "ICD9:286.3", "MEDGEN:8769", "MESH:D005168", "NANDO:2200675", "SCTID:37193007", "UMLS:C0015503" ], "synonyms": [ "F7 deficiency", "deficiency, stable", "factor 7 deficiency", "factor VII deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." }, "child_count": 4, "reference_id": "MONDO:0002244" }, { "id": 4364, "label": "factor X deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0023100", "MEDGEN:4635", "MESH:D005171", "NANDO:2200678", "NCIT:C131632", "SCTID:76642003", "UMLS:C0015519" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." }, "child_count": 4, "reference_id": "MONDO:0002247" }, { "id": 4662, "label": "purpura", "isLeaf": false, "isRoot": false, "parents": [ 4360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3326", "HP:0000979", "MEDGEN:19584", "MESH:D011693", "SCTID:387778001", "UMLS:C0034150" ], "synonyms": [ "purpura", "purpura (disease)" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." }, "child_count": 3, "reference_id": "MONDO:0002610" }, { "id": 5128, "label": "vascular hemostatic disease", "isLeaf": false, "isRoot": false, "parents": [ 4360, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:484", "GARD:0023389", "MEDGEN:154721", "MESH:D020141", "SCTID:21112004", "UMLS:C0600502" ], "synonyms": [ "disorder, vascular hemostatic", "disorders, vascular hemostatic", "hemostatic disorder", "hemostatic disorder, vascular", "hemostatic disorders, vascular", "vascular hemostatic disorder", "vascular hemostatic disorders" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." }, "child_count": 4, "reference_id": "MONDO:0003159" }, { "id": 10453, "label": "congenital factor V deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4360, 20023, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2216", "GARD:0002237", "MEDGEN:4633", "MedDRA:10048930", "NCIT:C98938", "OMIM:227400", "Orphanet:326", "SCTID:88776002", "UMLS:C0015499" ], "synonyms": [ "Owren disease", "Parahemophilia", "Proaccelerin deficiency", "congenital factor V deficiency", "hereditary Factor V deficiency", "hereditary factor V deficiency", "labile factor deficiency", "Owren Parahemophilia", "factor 5 deficiency", "factor V deficiency", "labile Factor deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." }, "child_count": 0, "reference_id": "MONDO:0009210" }, { "id": 10477, "label": "congenital high-molecular-weight kininogen deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111676", "GARD:0002684", "ICD9:286.9", "MEDGEN:75780", "MESH:C537060", "NANDO:2200685", "NCIT:C98946", "OMIM:228960", "Orphanet:483", "SCTID:27312002", "UMLS:C0272340", "icd11.foundation:453135247" ], "synonyms": [ "high molecular weight kininogen deficiency", "kininogen deficiency", "Fitzgerald trait", "Fitzgerald trait kininogen deficiency, total, included", "Flaujeac factor deficiency", "Flaujeac trait", "Flaujeac trait, included", "HMWK", "HMWK deficiency", "Williams trait", "Williams trait, included", "high-molecular-weight kininogen deficiency, congenital", "kininogen deficiency, high molecular weight", "kininogen deficiency, high molecular weight and LOW molecular weight, included", "kininogen deficiency, high molecular weight and Low molecular weight", "kininogen deficiency, total" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." }, "child_count": 0, "reference_id": "MONDO:0009234" }, { "id": 10552, "label": "congenital factor XII deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2905, 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2231", "GARD:0006558", "ICD9:286.3", "MEDGEN:8772", "MESH:D005175", "NANDO:2200680", "NCIT:C131740", "NORD:1119", "OMIM:234000", "Orphanet:330", "SCTID:46981006", "UMLS:C0015526" ], "synonyms": [ "Factor XII Deficiency", "Hageman Factor deficiency", "congenital Hageman factor deficiency", "congenital factor XII deficiency", "F12 deficiency", "Haf deficiency", "coagulation factor 12 deficiency", "factor 12 deficiency", "factor XII deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." }, "child_count": 0, "reference_id": "MONDO:0009315" }, { "id": 11086, "label": "alpha-2-plasmin inhibitor deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060601", "GARD:0000731", "MEDGEN:414178", "MESH:C537777", "NANDO:2200687", "OMIM:262850", "Orphanet:79", "SCTID:716746003", "UMLS:C2752081", "icd11.foundation:688627594" ], "synonyms": [ "alpha-2-plasmin inhibitor deficiency", "plasmin inhibitor deficiency", "anti-plasmin deficiency, congenital", "antiplasmin deficiency", "antiplasmin deficiency, congenital", "congenital alpha2-antiplasmin deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." }, "child_count": 0, "reference_id": "MONDO:0009883" }, { "id": 11751, "label": "hemophilia A", "isLeaf": false, "isRoot": false, "parents": [ 2902, 4360, 18652, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12134", "GARD:0006591", "ICD10CM:D66", "ICD9:286.0", "MEDGEN:5501", "MESH:D006467", "MedDRA:10016080", "NANDO:2200676", "NCIT:C27146", "NORD:1221", "OMIM:134500", "OMIM:306700", "Orphanet:98878", "SCTID:234440005", "UMLS:C0019069", "icd11.foundation:337607970" ], "synonyms": [ "congenital factor VIII disorder", "factor VIII deficiency", "haemophilia a, X-linked recessive", "haemophilia type A", "haemophilia type a", "hemophilia A", "hemophilia a, X-linked recessive", "hemophilia type A", "hemophilia type a", "hereditary Factor VIII deficiency", "hereditary Factor VIII deficiency disease", "HEMA", "Haemophilia A", "autosomal haemophilia a", "autosomal hemophilia a", "classic haemophilia", "classic hemophilia", "classical haemophilia", "classical hemophilia", "factor 8 deficiency", "haemophilia A, congenital", "hem A", "hemophilia A, congenital", "hemophilia, classic" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." }, "child_count": 20, "reference_id": "MONDO:0010602" }, { "id": 11753, "label": "hemophilia B", "isLeaf": false, "isRoot": false, "parents": [ 4360, 18652, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12259", "GARD:0008732", "ICD10CM:D67", "ICD9:286.1", "MEDGEN:945", "MESH:D002836", "MedDRA:10016077", "NANDO:2200677", "NCIT:C26721", "NORD:1222", "OMIM:306900", "Orphanet:98879", "SCTID:41788008", "UMLS:C0008533", "icd11.foundation:1901375668" ], "synonyms": [ "Christmas disease", "congenital factor IX deficiency", "congenital factor IX disorder", "factor IX deficiency", "haemophilia b, X-linked recessive", "haemophilia type B", "hemophilia B", "hemophilia b, X-linked recessive", "hemophilia type B", "hereditary Factor IX deficiency", "hereditary Factor IX deficiency disease", "F9 deficiency", "HEMB", "factor 9 deficiency", "haemophilia B Leyden", "haemophilia B(M)", "hem B", "hemophilia B Leyden", "hemophilia B(M)", "plasma thromboplastin component deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." }, "child_count": 12, "reference_id": "MONDO:0010604" }, { "id": 12711, "label": "East Texas bleeding disorder", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017613", "MEDGEN:342980", "MESH:C565275", "OMIM:605913", "Orphanet:391320", "UMLS:C1853831" ], "synonyms": [ "Bdet", "bleeding disorder, EAST Texas type" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011615" }, { "id": 13937, "label": "congenital factor XI deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2905, 4360, 10564, 20024, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2229", "GARD:0009670", "ICD10CM:D68.1", "ICD9:286.2", "MEDGEN:8770", "NCIT:C84705", "OMIM:612416", "Orphanet:329", "SCTID:49762007", "UMLS:C0015523", "icd11.foundation:413739466" ], "synonyms": [ "PTA deficiency", "Rosenthal factor deficiency", "Rosenthal syndrome", "Rosenthal's disease", "congenital factor XI deficiency", "factor XI deficiency, autosomal dominant", "factor XI deficiency, autosomal recessive", "haemophilia C", "hemophilia C", "hereditary Factor XI deficiency", "hereditary factor XI deficiency", "hereditary factor XI deficiency disease", "plasma thromboplastin antecedent deficiency", "F11 deficiency", "factor 11 deficiency", "factor XI deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." }, "child_count": 0, "reference_id": "MONDO:0012897" }, { "id": 13941, "label": "inherited prekallikrein deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 20411, 23419 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004477", "ICD9:286.9", "MESH:C562725", "NANDO:2200684", "OMIM:612423", "Orphanet:749" ], "synonyms": [ "congenital prekallikrein deficiency", "fletcher factor (prekallikrein) deficiency", "hereditary prekallikrein deficiency", "Fletcher Factor deficiency", "PKK deficiency", "prekallikrein deficiency", "prekallikrein deficiency, congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0012901" }, { "id": 14263, "label": "congenital plasminogen activator inhibitor type 1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004381", "MEDGEN:412870", "MESH:C567640", "NANDO:2200688", "NCIT:C133884", "OMIM:613329", "Orphanet:465", "SCTID:717407006", "UMLS:C2750067", "icd11.foundation:428643962" ], "synonyms": [ "congenital PAI-1 deficiency", "congenital plasminogen activator inhibitor type 1 deficiency", "hyperfibrinolysis due to Pai1 deficiency", "plasminogen activator INHIBITOR-1 deficiency", "plasminogen activator inhibitor type 1 deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." }, "child_count": 0, "reference_id": "MONDO:0013227" }, { "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": 16482, "label": "congenital vitamin K-dependent coagulation factors deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112172", "GARD:0020121", "MEDGEN:1378036", "OMIMPS:277450", "Orphanet:169826", "Orphanet:98434", "UMLS:C4510617", "icd11.foundation:54644599" ], "synonyms": [ "congenital vitamin K-dependent coagulation factors combined deficiency", "vitamin K-dependent clotting factors, combined deficiency of" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." }, "child_count": 20, "reference_id": "MONDO:0015722" }, { "id": 16554, "label": "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020148", "MEDGEN:1675899", "Orphanet:178396", "UMLS:C5190706", "icd11.foundation:59972355" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015801" }, { "id": 18055, "label": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018787", "MEDGEN:1391655", "Orphanet:3151", "UMLS:C4518551" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0017837" }, { "id": 18203, "label": "congenital factor XIII deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4358, 4360, 10564 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2211", "GARD:0010766", "ICD9:286.3", "MEDGEN:4639", "NANDO:2200681", "NCIT:C131633", "Orphanet:331", "SCTID:50189006", "UMLS:C0015530" ], "synonyms": [ "fibrin-stabilizing factor deficiency", "factor XIII deficiency", "fibrin stabilising factor deficiency", "fibrin stabilizing factor deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." }, "child_count": 6, "reference_id": "MONDO:0018029" }, { "id": 18223, "label": "congenital fibrinogen deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002320", "MEDGEN:9230", "Orphanet:335", "UMLS:C0019250", "icd11.foundation:1452989457" ], "synonyms": [ "congenital fibrinogen deficiency", "fibrinogen deficiency, congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." }, "child_count": 2, "reference_id": "MONDO:0018060" }, { "id": 18319, "label": "combined deficiency of factor V and factor VIII", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016639", "MEDGEN:384006", "NANDO:2200686", "Orphanet:35909", "SCTID:715559004", "UMLS:C1856883", "icd11.foundation:184219764" ], "synonyms": [ "F5F8D", "FV and FVIII combined deficiency", "combined deficiency of factor V and factor type VIII", "familial multiple coagulation factor deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." }, "child_count": 6, "reference_id": "MONDO:0018175" }, { "id": 19017, "label": "acquired hemophilia", "isLeaf": false, "isRoot": false, "parents": [ 4360, 18652, 20034 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010350", "ICD10CM:D68.311", "MEDGEN:204253", "MedDRA:10053745", "NANDO:1200898", "Orphanet:73274", "UMLS:C1096116" ], "synonyms": [ "acquired hemophilia", "hemophilia, acquired" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications." }, "child_count": 9, "reference_id": "MONDO:0019139" }, { "id": 19243, "label": "fetal and neonatal alloimmune thrombocytopenia", "isLeaf": false, "isRoot": false, "parents": [ 4360, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002295", "MEDGEN:1720701", "NANDO:2200647", "NORD:91170", "OMIMPS:621264", "Orphanet:853", "SCTID:240305000", "UMLS:C3854603" ], "synonyms": [ "NAIT" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns." }, "child_count": 6, "reference_id": "MONDO:0019415" }, { "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" }, { "id": 19919, "label": "acquired von willebrand syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4360, 20034, 21519 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111146", "GARD:0005573", "MEDGEN:543999", "MedDRA:10069495", "NANDO:1200899", "Orphanet:99147", "PMID:28028990", "SCTID:234451005", "UMLS:C0272362" ], "synonyms": [ "acquired von Willebrand disease", "acquired von Willebrand disease (hereditary or acquired)", "acquired von willebrand disease", "Willebrand disease, acquired" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." }, "child_count": 0, "reference_id": "MONDO:0020460" }, { "id": 21340, "label": "prothrombin deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025386", "MEDGEN:1651913", "UMLS:C4722227" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0024307" }, { "id": 25104, "label": "hemophilia B leyden", "isLeaf": true, "isRoot": false, "parents": [ 4360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022455", "MEDGEN:1845499", "Orphanet:617930", "UMLS:C5848256" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850054" } ], "roots": [ { "id": 7217, "label": "hematologic disorder" } ] }