Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pancytopenia with pancreatitis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Scott syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Acquired inhibitor of coagulation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Pure red cell aplasia, acquired |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
7 |
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
6 |
dysfonctionnement plaquettaire médicamenteux |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Cellular immunologic aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Resistance to activated protein C due to factor V Leiden mutation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Anticoagulant overdosage (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to antineoplastic agent therapy |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to trauma (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Isolated collagen aggregation defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to myeloproliferative disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to hypothermia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Wiskott-Aldrich syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Primary antiphospholipid syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
syndrome des antiphospholipides primaire avec atteinte organique ou systémique |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Primary antiphospholipid syndrome with multisystem involvement |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Secondary antiphospholipid syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
syndrome des antiphospholipides secondaire avec atteinte organique ou systémique |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Secondary antiphospholipid syndrome with multisystem involvement |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Chronic idiopathic thrombocytopenic purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Aplastic anaemia due to chronic disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Hemorrhagic disease of the newborn due to factor II deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Thrombophilia due to paroxysmal nocturnal haemoglobinuria |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia due to infection |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
8 |
Platelet secretory disorder |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia due to radiation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Acute purpuric eruption of skin (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
4 |
Acquired factor VIII deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired factor XI deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Metabolic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Acquired aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Perinatal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Congenital afibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Secondary aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Factor XI inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor IX inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to acquired antithrombin III deficiency |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Doan-Wright syndrome |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
6 |
Glanzmann's thrombasthenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Platelet procoagulant activity deficiency |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antiphospholipid syndrome in pregnancy |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Bernard Soulier syndrome |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Induced termination of pregnancy complicated by afibrinogenemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor XIII inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Transient neonatal disorder of coagulation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Warfarin overdosage |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Estren-Dameshek anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Thrombophilia caused by vascular device (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to immobilisation |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
7 |
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. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor X inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antiphospholipid syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Congenital hypofibrinogenemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Hereditary factor IX deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired afibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Congenital factor IX deficiency variant |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Purpura of skin co-occurrent and due to vascular fragility (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Congenital factor IX deficiency with inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Purpura of skin caused by mechanical force (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
maladie de von Willebrand congénitale |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Congenital von Willebrand's disease type I |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired combined coagulation factor deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Congenital von Willebrand's disease type II |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Congenital von Willebrand's disease type III |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Disseminated intravascular coagulation due to placental abruption (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare bleeding disorder characterized by defects in von Willebrand factor, similar to those seen in hereditary von Willebrand disease (VWD), but which are caused by an underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
von Willebrand factor inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor VIII inhibitor disorder (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Congenital fibrinogen abnormality |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Parvoviral aplastic crisis |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
7 |
A rare congenital disorder of glycosylation characterised by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Humoral immunologic aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
purpura thrombopénique aigu idiopathique |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
5 |
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). |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired fibrinogen abnormality |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenic purpura |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Acquired thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
7 |
Factor I inhibitor disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired coagulation disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Transient neonatal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Purpura fulminans |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Acquired factor VII deficiency disease |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Secondary cryofibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Inherited platelet disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Platelet type pseudo-von Willebrand disease |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Constitutional aplastic anemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Glycoprotein Ia defect |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Glycoprotein Ib defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Uremic thrombocytopenia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Acquired storage pool deficiency (platelets) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |