{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6420&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6380&ordering=identifier","results":[{"identifier":"Thrombocytopenia 2.","acronym":"THC2.","accession":"DI-01099","synonyms":"Thrombocytopenia, autosomal dominant, 2.; Thrombocytopenia autosomal dominant 2.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ","keywords":null},{"identifier":"Thrombocytopenia 3.","acronym":"THC3.","accession":"DI-04981","synonyms":null,"cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. ","keywords":null},{"identifier":"Thrombocytopenia 4.","acronym":"THC4.","accession":"DI-01100","synonyms":"Thrombocytopenia autosomal dominant 4.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ","keywords":null},{"identifier":"Thrombocytopenia 5.","acronym":"THC5.","accession":"DI-04335","synonyms":"Thrombocytopenia, autosomal dominant, 5.; Thrombocytopenia 5 with increased susceptibility to malignancy.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. ","keywords":null},{"identifier":"Thrombocytopenia 6.","acronym":"THC6.","accession":"DI-04719","synonyms":"Thrombocytopenia, autosomal dominant, 6.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. ","keywords":null},{"identifier":"Thrombocytopenia 7.","acronym":"THC7.","accession":"DI-05994","synonyms":"Thrombocytopenia, autosomal dominant, 7.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes. ","keywords":null},{"identifier":"Thrombocytopenia 8, with dysmorphic features and developmental delay.","acronym":"THC8.","accession":"DI-06744","synonyms":null,"cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC8 is an autosomal dominant form characterized by early- childhood onset of thrombocytopenia with platelet anisotropy. Affected individuals also have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development. ","keywords":null},{"identifier":"Thrombocytopenia 9.","acronym":"THC9.","accession":"DI-06745","synonyms":"Thrombocytopenia, autosomal dominant, 9.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC9 is an autosomal dominant form characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others may be asymptomatic. ","keywords":null},{"identifier":"Thrombocytopenia-absent radius syndrome.","acronym":"TAR.","accession":"DI-04993","synonyms":"Absent radii and thrombocytopenia.; Radial aplasia-thrombocytopenia syndrome.; TAR syndrome.; ","cross_references":"MeSH; D038062.","definition":"An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee. ","keywords":null},{"identifier":"Thrombocytopenia, anemia, and myelofibrosis.","acronym":"THAMY.","accession":"DI-04987","synonyms":null,"cross_references":"MeSH; D055728.","definition":"An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis. ","keywords":null},{"identifier":"Thrombocytopenia with beta-thalassemia, X-linked.","acronym":"XLTT.","accession":"DI-02461","synonyms":"Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis.; ","cross_references":"MeSH; D017086.","definition":"An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta- thalassemia minor. ","keywords":null},{"identifier":"Thrombophilia 13, X-linked, due to factor VIII defect.","acronym":"THPH13.","accession":"DI-06326","synonyms":null,"cross_references":"MeSH; D019851.","definition":"An X-linked dominant, hemostatic disorder associated with markedly elevated F8 levels, and characterized by severe thrombophilia. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to activated protein C resistance.","acronym":"THPH2.","accession":"DI-01101","synonyms":"Activated protein C resistance.; APC resistance.; PCCF deficiency.; PROC cofactor deficiency.; Thrombophilia due to deficiency of activated protein C cofactor.; Thrombophilia due to factor V Leiden.; Thrombophilia V.; ","cross_references":"MeSH; D020016.","definition":"A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to heparin cofactor 2 deficiency.","acronym":"THPH10.","accession":"DI-00541","synonyms":"Heparin cofactor II deficiency.; ","cross_references":"MeSH; D019851.","definition":"A hemostatic disorder characterized by a tendency to recurrent thrombosis. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to histidine-rich glycoprotein deficiency.","acronym":"THPH11.","accession":"DI-02525","synonyms":null,"cross_references":"MeSH; D019851.","definition":"A hemostatic disorder characterized by a tendency to thrombosis. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to protein C deficiency, autosomal dominant.","acronym":"THPH3.","accession":"DI-00956","synonyms":"PROC deficiency autosomal dominant.; Protein C deficiency autosomal dominant.; ","cross_references":"MeSH; D020151.","definition":"A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to protein C deficiency, autosomal recessive.","acronym":"THPH4.","accession":"DI-00957","synonyms":"PROC deficiency autosomal recessive.; Protein C deficiency autosomal recessive.; ","cross_references":"MeSH; D020151.","definition":"A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to protein S deficiency, autosomal dominant.","acronym":"THPH5.","accession":"DI-00958","synonyms":"Thrombophilia autosomal dominant due to protein S deficiency.; Thrombophilia autosomal recessive due to protein S deficiency.; ","cross_references":"MeSH; D018455.","definition":"A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to protein S deficiency, autosomal recessive.","acronym":"THPH6.","accession":"DI-03365","synonyms":null,"cross_references":"MeSH; D018455.","definition":"A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia due to thrombin defect.","acronym":"THPH1.","accession":"DI-02665","synonyms":"Thrombophilia due to factor 2 defect.; Venous thromboembolism.; Venous thrombosis.; ","cross_references":"MeSH; D019851.","definition":"A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. ","keywords":"KW-0792:Thrombophilia.; "}]}