Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pancytopenia with pancreatitis |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
Scott syndrome (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
8 |
Acquired inhibitor of coagulation |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
erhvervet pure red cell-aplasi |
Interprets |
False |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
6 |
Trombocytdysfunktion forårsaget af medikamenter |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
3 |
Cellular immunologic aplastic anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
8 |
Resistance to activated protein C due to factor V Leiden mutation |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Anticoagulant overdosage |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to antineoplastic agent therapy |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to trauma (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Isolated collagen aggregation defect |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to myeloproliferative disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to hypothermia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
4 |
Wiskott-Aldrich syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Primary antiphospholipid syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
primært antifosfolipidsyndrom med organ-/systeminvolvering |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
A rare genetic coagulation disorder with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Primary antiphospholipid syndrome with multisystem involvement |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Secondary antiphospholipid syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
sekundært antifosfolipidsyndrom med organ-/systeminvolvering |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Secondary antiphospholipid syndrome with multisystem involvement |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Chronic idiopathic thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
5 |
Aplastic anemia due to chronic disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
8 |
Hemorrhagic disease of the newborn due to factor II deficiency |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
4 |
Thrombophilia due to paroxysmal nocturnal haemoglobinuria |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia due to infection |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
8 |
Platelet secretory disorder |
Interprets |
False |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia due to radiation |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
8 |
Acute purpuric eruption of skin (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
4 |
Acquired factor VIII deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired factor XI deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Metabolic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Acquired aplastic anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
Perinatal thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Congenital afibrinogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Secondary aplastic anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
Factor XI inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor IX inhibitor disorder |
Interprets |
True |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
2 |
trombofili som følge af erhvervet antitrombin III-mangel |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Doan-Wright syndrome |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
6 |
Glanzmann's thrombasthenia |
Interprets |
True |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
7 |
Platelet procoagulant activity deficiency |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Antiphospholipid syndrome in pregnancy |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Bernard Soulier syndrome |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
3 |
Induced termination of pregnancy complicated by afibrinogenemia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor XIII inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Transient neonatal disorder of coagulation |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Warfarin overdosage |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Estren-Dameshek anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
Thrombophilia caused by vascular device (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombophilia due to immobilisation |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
False |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor X inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Antiphospholipid syndrome |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Congenital hypofibrinogenemia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Hereditary factor IX deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired afibrinogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Congenital factor IX deficiency variant |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Purpura of skin co-occurrent and due to vascular fragility (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
4 |
Congenital factor IX deficiency with inhibitor |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Purpura of skin caused by mechanical force (disorder) |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
kongenit von Willebrands sygdom |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
kongenit von Willebrands sygdom type I |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired combined coagulation factor deficiency (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
A rare genetic hematologic disorder 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. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
kongenit von Willebrands sygdom type II |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
kongenit von Willebrands sygdom type III |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Disseminated intravascular coagulation due to placental abruption (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired von Willebrand disease (VWD) is a rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. There are three principle pathogenic mechanisms described which are firstly the presence of autoantibodies (inhibiting or noninhibiting) that form immune complexes with the von Willebrand factor (VWF) leading to rapid clearance of VWF from the circulation. Secondly, absorption of VWF onto malignant cell clones and thirdly the increased proteolysis of high molecular weight VWF multimers under abnormal blood conditions caused by cardiovascular malformations (such as aortic valve stenosis). |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
von Willebrand factor inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Factor VIII inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Congenital fibrinogen abnormality |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Parvoviral aplastic crisis (disorder) |
Interprets |
False |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
2 |
Humoral immunologic aplastic anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
8 |
Akut idiopatisk trombocytopenisk purpura |
Interprets |
False |
Haemostatic 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 |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired fibrinogen abnormality |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenic purpura |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
4 |
Acquired thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
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. Caused by mutation in the GATA1 gene on chromosome Xp11. |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
7 |
Factor I inhibitor disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Acquired coagulation disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Transient neonatal thrombocytopenia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Purpura fulminans |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
5 |
Acquired factor VII deficiency disease |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Secondary cryofibrinogenemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
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 |
Haemostatic function |
Inferred relationship |
Some |
8 |
Inherited platelet disorder |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
pseudo-von Willebrands sygdom |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
3 |
Constitutional aplastic anemia |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
7 |
Glycoprotein Ia defect |
Interprets |
False |
Haemostatic function |
Inferred relationship |
Some |
2 |
Glycoprotein Ib defect |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
2 |
Uremic thrombocytopenia (disorder) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |
Acquired storage pool deficiency (platelets) |
Interprets |
True |
Haemostatic function |
Inferred relationship |
Some |
3 |