Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thrombocytopenia due to blood loss |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor IX deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
von Willebrand disease, type IIB |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Dysfibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary von Willebrand disease type 2A |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mild hereditary factor IX deficiency disease with inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hemorrhagic disorder due to increase in anti-8a (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Platelet disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Gamma chain defect dysfibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A bleeding disorder characterized by 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 |
Hemostatic function |
Inferred relationship |
Some |
1 |
Passovoy factor deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A form of von Willebrand disease (VWD) characterised by 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. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hypoplasminogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Purpura due to prolonged vomiting and/or coughing (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Postpartum afibrinogenaemia with haemorrhage |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Mild hereditary factor IX deficiency disease without inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Familial multiple factor deficiency syndrome, type VI |
Interprets |
True |
Hemostatic 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 |
Hemostatic function |
Inferred relationship |
Some |
2 |
Moderate hereditary factor VIII deficiency disease without inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Itching purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Kasabach-Merritt syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Protein S deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombocytopenic disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Hyperfibrinogenemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Post infectious thrombocytopenic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Thrombocytopenia due to extracorporeal circulation (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Primary non-thrombocytopenic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Blood coagulation disorder with shortened bleeding time |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Montreal platelet syndrome (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Deficiency of naturally occurring coagulation factor inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Giant platelet syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Factor XI deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Platelet membrane defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Haemorrhagic disorder due to increase in anti-9a |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
8 |
von Willebrand disease, type 1^a^ |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Cyclic thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor XI deficiency, type III |
Interprets |
True |
Hemostatic 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 |
Hemostatic function |
Inferred relationship |
Some |
4 |
Prothrombin complex deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Moderate disease manifests factor VIII activity of 2% to 5% of normal |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Factor VII deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Illegal abortion with afibrinogenemia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating pregnancy (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary hypoplasminogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Secondary thrombocytopenia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Idiopathic factor VIII deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mixed alpha granule and dense body deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Stellate pseudoscar in senile purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Hereditary factor II deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Secondary autoimmune thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Failed attempted abortion with defibrination syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Familial hemorrhagic diathesis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
dermatite ocra di Favre |
Interprets |
False |
Hemostatic 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 |
Hemostatic function |
Inferred relationship |
Some |
3 |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Macrothrombocytopenia with mitral valve insufficiency is 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 |
Hemostatic function |
Inferred relationship |
Some |
3 |
Failed attempted abortion with afibrinogenemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder with prolonged bleeding time (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mediterranean thrombocytopenia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
maladie de von Willebrand type 2M |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hereditary factor X deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
maladie de von Willebrand type 2B |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating childbirth |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hemophilia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Chronic acquired pure red cell aplasia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
6 |
Homozygous prothrombin G20210A mutation (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome, type I |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Late onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Steroid purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired factor IX deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Haemorrhagic disorder due to increase in anti-10a |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Non-thrombocytopenic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Postpartum coagulation defects |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Postpartum fibrinolysis with hemorrhage |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired pancytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
von Willebrand disease, type IIE |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Fibrinogen abnormality |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Miscarriage with defibrination syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
von Willebrand disease, type IIA |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Antiprothrombin disorder |
Interprets |
True |
Hemostatic 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 |
Hemostatic function |
Inferred relationship |
Some |
2 |
Capillary fragility abnormality |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
thrombopénie due à une circulation sanguine extracorporelle |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
von Willebrand disease, type IIF |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by 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 (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired PF-3 disease |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Autosomal dominant deficiency of plasminogen |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
High molecular weight kininogen deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia-dysmelia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
5 |
Autoimmune factor VIII deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Secondary non-thrombocytopenic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Platelet factor V deficiency (factor V Quebec) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hyperglobulinemic purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Hereditary thrombophilia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |