{ "id": 20411, "label": "inherited blood coagulation disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0021181", "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." }, "isLeaf": false, "isRoot": false, "child_count": 39, "parents": [ { "id": 3738, "label": "blood coagulation disease", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1247", "EFO:0009314", "ICD9:286", "ICD9:286.9", "ICD9:287.8", "MEDGEN:604", "MESH:D001778", "NCIT:C2902", "SCTID:64779008", "UMLS:C0005779" ], "synonyms": [ "blood coagulation disorder", "coagulation defect", "coagulation disorder", "coagulation disorder, blood", "coagulation disorders, blood", "coagulopathy", "disorder, blood coagulation", "disorders, blood coagulation" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." }, "child_count": 8, "reference_id": "MONDO:0001531" }, { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" } ], "children": [ { "id": 8966, "label": "factor VII and Factor VIII, combined deficiency of", "isLeaf": true, "isRoot": false, "parents": [ 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024565", "MEDGEN:341995", "MESH:C565025", "OMIM:134430", "UMLS:C1851377" ], "synonyms": [ "factor VII and Factor VIII, combined deficiency of", "factor 7 and Factor VIII, combined deficiency of", "familial multiple coagulation Factor deficiency 4", "multiple coagulation Factor deficiency 4" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007595" }, { "id": 9839, "label": "platelet-type bleeding disorder 16", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060691", "GARD:0024629", "MEDGEN:1781222", "MESH:C566061", "OMIM:187800", "UMLS:C5442010" ], "synonyms": [ "bleeding disorder, platelet-type, 16, autosomal dominant", "platelet-type bleeding disorder 16", "BDPLT16", "Glanzmann thrombasthenia, autosomal dominant", "bleeding disorder, platelet-type, 16", "thrombasthenia of Glanzmann and Naegeli, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." }, "child_count": 0, "reference_id": "MONDO:0008552" }, { "id": 10263, "label": "hypoplasminogenemia", "isLeaf": true, "isRoot": false, "parents": [ 4359, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111592", "GARD:0004380", "ICD9:372.39", "MEDGEN:369859", "MESH:C580017", "MedDRA:10071570", "OMIM:217090", "Orphanet:722", "Orphanet:97231", "SCTID:403435005", "SCTID:95840007", "UMLS:C1968804", "icd11.foundation:1240776230" ], "synonyms": [ "hypoplasminogenemia", "plasminogen deficiency type 1", "plasminogen deficiency, type 1", "plasminogen deficiency, type I", "type 1 plasminogen deficiency", "ligneous conjunctivitis" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae." }, "child_count": 0, "reference_id": "MONDO:0009009" }, { "id": 10402, "label": "Ehlers-Danlos syndrome, fibronectinemic type", "isLeaf": true, "isRoot": false, "parents": [ 2702, 19720, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008508", "MEDGEN:346497", "MESH:C565600", "OMIM:225310", "Orphanet:75501", "SCTID:83586000", "UMLS:C1857038" ], "synonyms": [ "EDS X", "Ehlers-Danlos syndrome type 10", "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality", "Ehlers-Danlos syndrome, fibronectin-deficient", "EDS 10", "EDS10 (formerly)", "Ehlers-Danlos syndrome type 10 (formerly)", "Ehlers-Danlos syndrome, dysfibronectinemic type", "Ehlers-Danlos syndrome, type 10", "Ehlers-Danlos syndrome, type X (formerly)", "FN Abnormality" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009158" }, { "id": 10449, "label": "factor V and factor VIII, combined deficiency of, type 1", "isLeaf": true, "isRoot": false, "parents": [ 18319, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018630", "MEDGEN:1637212", "OMIM:227300", "SCTID:84048006", "UMLS:C4551981" ], "synonyms": [ "LMAN1 combined deficiency of factor V and factor VIII", "combined deficiency of factor V and factor VIII caused by mutation in LMAN1", "combined factor V and VIII deficiency", "factor 5 and Factor VIII, combined deficiency of, 1", "factor V and factor VIII, combined deficiency of, type 1", "F5F8D1", "FMFD 1", "factor V and factor VIII, combined deficiency of, 1", "familial multiple coagulation Factor deficiency 1", "multiple coagulation Factor deficiency 1" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." }, "child_count": 0, "reference_id": "MONDO:0009206" }, { "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": 11088, "label": "Scott syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111052", "GARD:0004777", "MEDGEN:167107", "MESH:C563120", "NANDO:2200671", "OMIM:262890", "Orphanet:806", "SCTID:128098009", "UMLS:C0796149", "icd11.foundation:186013982" ], "synonyms": [ "BDPLT7", "SCTS", "Scott syndrome", "prothrombin consumption deficiency", "Platelet factor X receptor deficiency", "bleeding Abnormality due to deficiency of Platelet binding of Factor 10", "bleeding disorder, Platelet-type, 7", "prothrombin consumption inhibitor, familial", "prothrombin conversion defect, familial" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." }, "child_count": 0, "reference_id": "MONDO:0009885" }, { "id": 11284, "label": "Tatsumi factor deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024707", "MEDGEN:336460", "MESH:C564787", "OMIM:272650", "UMLS:C1848931" ], "synonyms": [ "Tatsumi factor deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010097" }, { "id": 11306, "label": "congenital thrombotic thrombocytopenic purpura", "isLeaf": true, "isRoot": false, "parents": [ 2702, 10564, 18824, 20411, 23981 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009430", "ICD9:287.33", "MEDGEN:224783", "NANDO:1200317", "NCIT:C131657", "OMIM:274150", "Orphanet:93583", "SCTID:373420004", "UMLS:C1268935" ], "synonyms": [ "Upshaw-Schulman syndrome", "congenital ADAMTS-13 deficiency", "congenital ADAMTS13 deficiency", "congenital TTP", "congenital thrombotic thrombocytopenic purpura", "familial TTP", "hereditary thrombotic thrombocytopenic purpura", "thrombotic thrombocytopenic purpura, hereditary", "Microangiopathic hemolytic Anaemia", "Microangiopathic hemolytic Anemia", "Microangiopathic hemolytic Anemia, congenital", "Schulman-Upshaw syndrome", "TTP", "TTP, congenital", "USS", "Upshaw Factor, deficiency of", "thrombotic microangiopathy, familial", "thrombotic thrombocytopenic purpura, congenital", "thrombotic thrombocytopenic purpura, familial" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." }, "child_count": 0, "reference_id": "MONDO:0010122" }, { "id": 11675, "label": "Wiskott-Aldrich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2902, 16075, 16218, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9169", "GARD:0007895", "ICD10CM:D82.0", "ICD9:279.12", "MEDGEN:21921", "MESH:D014923", "MedDRA:10047992", "NANDO:1200330", "NANDO:2200704", "NCIT:C3448", "OMIM:301000", "Orphanet:906", "SCTID:36070007", "UMLS:C0043194", "icd11.foundation:168952525" ], "synonyms": [ "WAS", "Wiskott Aldrich syndrome", "Wiskott-Aldrich syndrome", "Wiskott-Aldrich syndrome 1", "Wiskott-Aldrich syndrome, X-linked recessive", "eczema-thrombocytopenia-immunodeficiency syndrome", "immunodeficiency 2", "Aldrich syndrome", "Imd 2", "eczema thrombocytopenia immunodeficiency syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." }, "child_count": 0, "reference_id": "MONDO:0010518" }, { "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": 12197, "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010352", "MESH:C563324", "NCIT:C162696", "Orphanet:71290", "SCTID:725034002" ], "synonyms": [ "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "familial platelet syndrome with predisposition to acute myelogenous leukaemia", "familial thrombocytopenia with propensity to acute myelogenous leukaemia", "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." }, "child_count": 4, "reference_id": "MONDO:0011071" }, { "id": 12684, "label": "platelet-type bleeding disorder 12", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111058", "GARD:0010575", "MEDGEN:414043", "MESH:C567786", "OMIM:605735", "UMLS:C2751535" ], "synonyms": [ "BDPLT12", "PGHS1 deficiency", "platelet COX1 deficiency", "platelet cyclooxygenase 1 deficiency", "bleeding disorder, platelet-type, 12", "prostaglandin-endoperoxide synthase 1 deficiency, platelet" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." }, "child_count": 0, "reference_id": "MONDO:0011588" }, { "id": 13099, "label": "platelet-type bleeding disorder 10", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111046", "GARD:0024837", "MEDGEN:374856", "MESH:C564245", "OMIM:608404", "UMLS:C1842090" ], "synonyms": [ "BDPLT10", "CD36 deficiency", "CD36 inherited bleeding disorder, platelet-type", "inherited bleeding disorder, platelet-type caused by mutation in CD36", "platelet-type bleeding disorder 10", "bleeding disorder, Platelet-type, 10", "platelet glycoprotein 4 deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." }, "child_count": 0, "reference_id": "MONDO:0012031" }, { "id": 13408, "label": "platelet-type bleeding disorder 8", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060692", "GARD:0012478", "MEDGEN:344008", "MESH:C565220", "NANDO:2200669", "OMIM:609821", "Orphanet:36355", "SCTID:725291001", "UMLS:C1853278" ], "synonyms": [ "platelet-type bleeding disorder 8", "BDPLT8", "bleeding disorder due to P2Rx1 defect, somatic", "bleeding disorder due to P2Ry12 defect", "bleeding disorder, platelet-type 8", "bleeding disorder, platelet-type, 8" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." }, "child_count": 0, "reference_id": "MONDO:0012354" }, { "id": 13514, "label": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "isLeaf": true, "isRoot": false, "parents": [ 10564, 17977, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009965", "MEDGEN:1684821", "NANDO:1200983", "OMIM:610293", "Orphanet:83639", "SCTID:724344004", "UMLS:C5201145", "icd11.foundation:1811042875" ], "synonyms": [ "PIGM-CDG", "GPI deficiency", "GPID", "congenital disorder of glycosylation due to PIGM deficiency", "glycosylphosphatidylinositol biosynthesis defect 1", "glycosylphosphatidylinositol deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." }, "child_count": 0, "reference_id": "MONDO:0012465" }, { "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": 14223, "label": "factor XIII, A subunit, deficiency of", "isLeaf": true, "isRoot": false, "parents": [ 18203, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015633", "MEDGEN:442497", "MESH:C567691", "OMIM:613225", "SCTID:439455002", "UMLS:C2750514" ], "synonyms": [ "factor XIII, A subunit, deficiency of", "factor XIIIA deficiency", "hereditary factor XIII A subunit deficiency", "hereditary factor XIII alpha subunit deficiency", "hereditary factor XIII type II deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013187" }, { "id": 14226, "label": "factor XIII, b subunit, deficiency of", "isLeaf": true, "isRoot": false, "parents": [ 18203, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015635", "MEDGEN:442490", "MESH:C567688", "OMIM:613235", "UMLS:C2750481" ], "synonyms": [ "factor XIII, b subunit, deficiency of", "factor XIIIB deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013190" }, { "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": 14366, "label": "factor 5 and Factor VIII, combined deficiency of, 2", "isLeaf": true, "isRoot": false, "parents": [ 18319, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018632", "MEDGEN:462239", "OMIM:613625", "UMLS:C3150889" ], "synonyms": [ "MCFD2 combined deficiency of factor V and factor VIII", "combined deficiency of factor V and factor VIII caused by mutation in MCFD2", "factor 5 and Factor VIII, combined deficiency of, 2", "factor 5 and Factor VIII, combined deficiency of, type 2", "factor V and factor VIII, combined deficiency of", "F5F8D2", "factor V and factor VIII, combined deficiency of, 2" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." }, "child_count": 0, "reference_id": "MONDO:0013331" }, { "id": 14623, "label": "platelet-type bleeding disorder 14", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111047", "GARD:0024935", "MEDGEN:98307", "MESH:C562866", "OMIM:614158", "SCTID:234477002", "UMLS:C0398635" ], "synonyms": [ "BDPLT14", "TBXAS1 inherited bleeding disorder, platelet-type", "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1", "bleeding disorder, platelet-type, 14", "thromboxane synthetase deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." }, "child_count": 0, "reference_id": "MONDO:0013597" }, { "id": 15388, "label": "platelet-type bleeding disorder 18", "isLeaf": true, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111051", "GARD:0017695", "MEDGEN:863021", "OMIM:615888", "Orphanet:420566", "UMLS:C4014584" ], "synonyms": [ "BDPLT18", "RASGRP2 inherited bleeding disorder, platelet-type", "bleeding disorder due to CalDAG-GEFI deficiency", "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency", "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2", "platelet-type bleeding disorder 18", "bleeding disorder, platelet-type, 18" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." }, "child_count": 0, "reference_id": "MONDO:0014386" }, { "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": 18175, "label": "hereditary thrombocytosis with transverse limb defect", "isLeaf": true, "isRoot": false, "parents": [ 10564, 18362, 18956, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021487", "MEDGEN:1653707", "Orphanet:329319", "UMLS:C4749944" ], "synonyms": [ "familial thrombocytosis with transverse limb defect", "thrombocythemia with distal limb defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." }, "child_count": 0, "reference_id": "MONDO:0018000" }, { "id": 18213, "label": "familial thrombomodulin anomalies", "isLeaf": true, "isRoot": false, "parents": [ 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005195", "HGNC:11784", "MEDGEN:419059", "MESH:C536900", "Orphanet:3324", "UMLS:C2931365" ], "synonyms": [ "thrombomodulin anomalies, familial" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018047" }, { "id": 18745, "label": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "isLeaf": true, "isRoot": false, "parents": [ 2702, 6756, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017857", "MEDGEN:1799074", "OMIM:618372", "Orphanet:477787", "UMLS:C5567651" ], "synonyms": [ "PLA2G4A-related platelet dysfunction", "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency", "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS", "GURDP", "Phospholipase A2, Group Iva, Deficiency of" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018794" }, { "id": 19153, "label": "Hermansky-Pudlak syndrome", "isLeaf": false, "isRoot": false, "parents": [ 17626, 17972, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3753", "GARD:0006643", "ICD10CM:E70.331", "ICD9:270.2", "MEDGEN:36313", "MESH:D022861", "MedDRA:10071775", "NANDO:1200638", "NCIT:C37261", "NORD:1918", "OMIMPS:203300", "Orphanet:79430", "SCTID:9311003", "UMLS:C0079504", "icd11.foundation:2089801290" ], "synonyms": [ "HPS", "HPS (Hermansky Pudlak syndrome)", "Hepatopulmonary Syndrome", "Hermansky Pudlak syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." }, "child_count": 27, "reference_id": "MONDO:0019312" }, { "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": 23980, "label": "inherited thrombophilia", "isLeaf": false, "isRoot": false, "parents": [ 4413, 20411 ], "type_id": 0, "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." }, "child_count": 24, "reference_id": "MONDO:0100240" }, { "id": 24059, "label": "Glanzmann thrombasthenia", "isLeaf": false, "isRoot": false, "parents": [ 2702, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002478", "MEDGEN:52736", "NORD:1186", "OMIMPS:273800", "Orphanet:849", "UMLS:C0040015", "icd11.foundation:1927726560" ], "synonyms": [ "Glanzmann thrombasthenia" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0100326" }, { "id": 24262, "label": "plasminogen deficiency, type II", "isLeaf": true, "isRoot": false, "parents": [ 4359, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026269", "MEDGEN:904685", "UMLS:C4225445" ], "synonyms": [ "plasminogen deficiency, type 2" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100537" }, { "id": 24263, "label": "dysplasminogenemia", "isLeaf": true, "isRoot": false, "parents": [ 4359, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026270" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100538" }, { "id": 25595, "label": "hereditary hemolytic uremic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3755, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022330", "MEDGEN:1825935", "OMIMPS:235400", "Orphanet:576742", "UMLS:C5680355" ], "synonyms": [ "genetic hemolytic uremic syndrome" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0957097" } ], "roots": [ { "id": 3738, "label": "blood coagulation disease" }, { "id": 5714, "label": "hereditary disease" } ] }