Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A mild form of haemophilia A characterised by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous haemorrhages do not occur. Patients may be also labelled as having mild haemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with haemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary platelet function disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Postinfective immunoglobulin A vasculitis (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Blood coagulation disorder, categorised by value of screening test |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Factor X deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Homozygous protein S deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Disease that manifests either a quantitative or a qualitative defect of factor I |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to non-immune destruction |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleeding, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Gray platelet syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Purpura rheumatica |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
von Willebrand disease, type IIC |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Lupus anticoagulant disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Antithrombin III deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary von Willebrand disease type 2M |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary heparin cofactor II deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thromboxane generation defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pigmented purpuric lichenoid dermatitis of Gougerot and Blum |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary von Willebrand disease type 2B |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Amegakaryocytic thrombocytopenia with congenital malformation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Hereditary factor V deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Anti-factor II disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Anticoagulant excess without bleeding |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
von Willebrand disease type IA |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Radial aplasia-thrombocytopenia syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor XIII deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder due to liver disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Severe hereditary factor IX deficiency disease with inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hemorrhagic disorder due to antithrombinemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Alpha chain defect dysfibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome, type III |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
8 |
purpura thrombopénique congénital |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Hereditary von Willebrand disease type 1B |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Factor II deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Contact purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Homozygous protein C deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Sex-linked thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
8 |
Mild hereditary factor VIII deficiency disease without inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Megakaryocytic thrombocytopenia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Purpura pigmentosa chronica |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acute haemorrhagic oedema of childhood |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Clothing purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
von Willebrand disease, type IIH |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Legal abortion with afibrinogenemia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
MYH9 macrothrombocytopenia syndrome |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Secondary cutaneous vasculitis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Afibrinogenaemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Heterozygous protein C deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Severe hereditary factor IX deficiency disease without inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Essential thrombocythemia (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Refractory thrombocytopenia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Hereditary hyperhomocysteinemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary factor XIII B subunit deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary coagulation factor deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to isoimmunisation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Vitamin K deficiency coagulation disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombophilia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Reactive thrombocytosis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Homozygous Factor V Leiden mutation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Includes both quantitative and qualitative disorders of procoagulants |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hermansky-Pudlak syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Acquired hemophilia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Aplastic anemia due to drugs |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Acquired factor V deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Systemic lupus erythematosus-associated antiphospholipid syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Perinatal purpura |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Heparin-induced thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Congenital factor IX deficiency without inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Neonatal thrombocytopenia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare hemorrhagic disorder due to a constitutional hemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Protein-S-Mangel, erworbener |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to hypersplenism |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Immune thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Factor V inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired factor X deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
thrombophilie acquise d'origine médicamenteuse |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Pancytopenia caused by medication (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary dysfibrinogenemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
Immunologic aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Vascular hemostatic disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Thrombocytopenia with acquired immunodeficiency syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Acquired coagulation factor inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Platelet dysfunction caused by aspirin (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to defective platelet production |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Pancytopenia with pancreatitis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |