Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thrombocytopenia due to blood loss |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor IX deficiency (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hereditary thrombocytopenia with normal platelets |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
von Willebrands sygdom type IIB |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Dysfibrinogenemia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hereditary von Willebrand disease type 2A |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Mild hereditary factor IX deficiency disease with inhibitor (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hemorrhagic disorder due to increase in anti-8a (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Platelet disorder (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Gamma chain defect dysfibrinogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
A bleeding disorder with characteristics of mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Passovoy factor deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hypoplasminogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Purpura due to prolonged vomiting and/or coughing (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Postpartum afibrinogenemia with hemorrhage |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Mild hereditary factor IX deficiency disease without inhibitor (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Familial multiple factor deficiency syndrome, type VI |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Moderate hereditary factor VIII deficiency disease without inhibitor (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Itching purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Kasabach-Merritt syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Protein S deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Thrombocytopenic disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Hyperfibrinogenemia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Post infectious thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Thrombocytopenia due to extracorporeal circulation (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Primary non-thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Blood coagulation disorder with shortened bleeding time |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Montreal platelet syndrome (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Deficiency of naturally occurring coagulation factor inhibitor |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Giant platelet syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Factor XI deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Platelet membrane defect |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hemorrhagic disorder due to increase in anti-9a |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
8 |
von Willebrands sygdom, type 1^a^ |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Cyclic thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor XI deficiency, type III |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
4 |
Prothrombin complex deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Moderate disease manifests factor VIII activity of 2% to 5% of normal |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Factor VII deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Illegal abort med afibrinogenæmi |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating pregnancy (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hereditary hypoplasminogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Secondary thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Idiopathic factor VIII deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Mixed alpha granule and dense body deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Stellate pseudoscar in senile purpura (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Hereditary factor II deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Secondary autoimmune thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Failed attempted abortion with defibrination syndrome (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Familial hemorrhagic diathesis |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Akroangiodermatit |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
3 |
Failed attempted abortion with afibrinogenemia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder with prolonged bleeding time |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Mediterranean thrombocytopenia |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
3 |
von Willebrands sygdom type 2M |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hereditary factor X deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
von Willebrands sygdom type 2B |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating childbirth |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hemophilia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Chronic acquired pure red cell aplasia |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
6 |
Homozygous prothrombin G20210A mutation (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome, type I |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Late onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Steroid purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired factor IX deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hemorrhagic disorder due to increase in anti-10a |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Non-thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Postpartum coagulation defects |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Postpartum fibrinolysis with hemorrhage |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired pancytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
5 |
von Willebrands sygdom type IIE |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Fibrinogen abnormality |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Miscarriage with defibrination syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
von Willebrands sygdom type IIA |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
Antiprothrombin disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Capillary fragility abnormality |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Thrombocytopenia due to extracorporeal circulation of blood |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
von Willebrands sygdom, type IIF |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
1 |
A rare secondary neonatal autoimmune disease with characteristics of single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (for example cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired platelet factor 3 disease (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Autosomal dominant deficiency of plasminogen |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
High molecular weight kininogen deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
pancytopeni-dysmeli |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
5 |
Autoimmune factor VIII deficiency (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Secondary non-thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Platelet factor V deficiency (factor V Quebec) (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |
Hyperglobulinemic purpura (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Hereditary thrombophilia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
1 |