Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Thrombocytopaenia co-occurrent and due to alcoholism |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Doan-Wright syndrome |
Interprets |
True |
Platelet count |
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 |
Platelet count |
Inferred relationship |
Some |
5 |
Acquired pancytopenia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Evans syndrome |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Thrombotic thrombocytopenic purpura |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Pancytopenia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Pancytopenia with pancreatitis |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Pancytopenia-dysmelia |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
2 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
1 |
Autoimmune thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Acquired thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
2 |
Fanconi's anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Estren-Dameshek anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Autoimmune pancytopenia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Isolated thrombocytopenia (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Refractory thrombocytopenia (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
6 |
Pancytopenia caused by medication (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Congenital thrombocytopenia (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Inherited predisposition to essential thrombocythemia |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
1 |
Thrombocytosis |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Essential thrombocythemia (disorder) |
Interprets |
True |
Platelet count |
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 |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Post-splenectomy thrombocytosis |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Reactive thrombocytosis |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Pancytopenia due to antineoplastic chemotherapy (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Diarrhea-negative hemolytic uremic syndrome (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Acquired red cell aplasia |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
Aplastic anemia due to radiation |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Aplastic anaemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Constitutional aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Hemolytic uremic syndrome of childhood |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Diarrhea-associated hemolytic uremic syndrome (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Congenital hemolytic uremic syndrome (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Aplastic anemia caused by toxic cause |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Hemolytic uremic syndrome, adult type |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Hemolytic uremic syndrome |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Parvoviral aplastic crisis |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder) |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Aplastic anemia associated with pregnancy (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Aplastic anemia caused by antineoplastic agent |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Pure red cell aplasia, acquired |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
Aplastic anemia with AIDS (acquired immunodeficiency syndrome) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Constitutional aplastic anemia with malformation |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Aplastic anaemia due to chronic disease |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Acquired aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Idiopathic aplastic anaemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
Aplastic anemia associated with metabolic alteration (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Immunologic aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Secondary aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Aplastic anemia due to drugs |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Aplastic anemia associated with pancreatitis (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Transient acquired pure red cell aplasia |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
Aplastic anemia due to infection |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Chronic acquired pure red cell aplasia |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
5 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Humoral immunologic aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Cellular immunologic aplastic anemia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
Kasabach-Merritt syndrome |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
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 |
Platelet count |
Inferred relationship |
Some |
1 |
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
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 |
Platelet count |
Inferred relationship |
Some |
4 |
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). |
Interprets |
True |
Platelet count |
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 |
Platelet count |
Inferred relationship |
Some |
1 |
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 |
Platelet count |
Inferred relationship |
Some |
4 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
Pancytopenia caused by immunosuppressant |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
Atypical haemolytic uraemic syndrome |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to COVID-19 |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Fetal thrombocytopenia |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
1 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
False |
Platelet count |
Inferred relationship |
Some |
8 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
6 |
Pancytopenia caused by anticonvulsant |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Pancytopenia caused by antithyroid drug (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Thrombosis with thrombocytopenia syndrome with the detection of antibodies against PF-4 (platelet factor-4). |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
X-linked thrombocytopenia with normal platelets (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
2 |
Percentage reticulated platelet count |
Is a |
True |
Platelet count |
Inferred relationship |
Some |
|
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 |
Platelet count |
Inferred relationship |
Some |
3 |
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 |
Platelet count |
Inferred relationship |
Some |
4 |
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 |
Platelet count |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
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 |
Platelet count |
Inferred relationship |
Some |
2 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
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 |
Platelet count |
Inferred relationship |
Some |
3 |
Upshaw-Schulman syndrome (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
5 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
6 |
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
3 |
A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis, and Coxsackie virus. |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Postpartum hemolysis-elevated liver enzymes-low platelet count syndrome |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Fanconi anemia of complementation group C |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |
Pancytopenia caused by colchicine (disorder) |
Interprets |
True |
Platelet count |
Inferred relationship |
Some |
4 |