Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Amegakaryocytic thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Megakaryocytic thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
May-Hegglin anomaly |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
syndrome d'Epstein |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
4 |
Montreal platelet syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Mediterranean thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Post-splenectomy thrombocytosis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Platelet type pseudo-von Willebrand disease |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
3 |
Pancytopenia-dysmelia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
5 |
Essential thrombocythemia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Parvoviral aplastic crisis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Thrombocytosis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Aplastic anaemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Platelet dysfunction associated with uremia (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Aplastic anemia due to infection |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
8 |
Hereditary thrombocytopenic disorder (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Autoimmune neonatal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to sequestration |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Neonatal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
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 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
9 |
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired platelet disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Chronic acquired pure red cell aplasia |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
6 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
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 |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
Thrombocytopenia due to COVID-19 |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Familial pigmented purpuric eruption |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Fetal thrombocytopenia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Fetal hemophilia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Autoimmune thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Acquired thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Deficiency of coagulation factor due to vitamin K malabsorption (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Deficiency of coagulation factor due to vitamin K malabsorption in obstructive biliary disease (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Factor X deficiency due to systemic amyloidosis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Drug-induced fibrinolytic disorder |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Fibrinolytic disorder caused by tissue plasminogen activator |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Fibrinolytic disorder caused by urokinase |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia caused by anticonvulsant |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia caused by antithyroid drug (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombosis with thrombocytopenia syndrome with the detection of antibodies against PF-4 (platelet factor-4). |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
X-linked thrombocytopenia with normal platelets (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Acquired prekallikrein deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Antepartum hemorrhage with afibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Hyperfibrinolysis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with coagulation defect (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antepartum haemorrhage with hyperfibrinolysis |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Antepartum hemorrhage with coagulation defect - delivered |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with coagulation defect - not delivered |
Interprets |
False |
Hemostatic function |
Inferred relationship |
Some |
1 |
Antepartum hemorrhage with hypofibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with disseminated intravascular coagulation (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Maternal perinatal purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Fetal purpura (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Acquired antithrombin III deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Premature separation of placenta with coagulation defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
Acquired protein S deficiency |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Acquired protein C deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Acquired heparin cofactor II deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Intrapartum hemorrhage with coagulation defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Parturient hemorrhage associated with hypofibrinogenemia |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Postpartum afibrinogenaemia with haemorrhage |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Pigmented purpuric dermatosis (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Lichen aureus |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
Progressive pigmentary dermatosis of Schamberg |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |
A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Afibrinogenemia following molar pregnancy (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Afibrinogenemia following ectopic pregnancy (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
Defibrination syndrome following molar pregnancy |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Defibrination syndrome following ectopic pregnancy (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Postpartum hemolysis-elevated liver enzymes-low platelet count syndrome |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Fanconi anemia of complementation group C |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
Mild hereditary factor VIII deficiency disease with high response inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mild hereditary factor VIII deficiency disease with low response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Severe hereditary factor VIII deficiency disease with high response inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Severe hereditary factor VIII deficiency disease with low response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Moderate hereditary factor VIII deficiency disease with high response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Moderate hereditary factor VIII deficiency disease with low response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |