The molecular basis of hereditary clotting disorders. 1972

O D Ratnoff

UI MeSH Term Description Entries
D001777 Blood Coagulation The process of the interaction of BLOOD COAGULATION FACTORS that results in an insoluble FIBRIN clot. Blood Clotting,Coagulation, Blood,Blood Clottings,Clotting, Blood
D001778 Blood Coagulation Disorders Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions. Coagulation Disorders, Blood,Disorders, Blood Coagulation,Blood Coagulation Disorder,Coagulation Disorder, Blood,Disorder, Blood Coagulation
D001779 Blood Coagulation Factors Endogenous substances, usually proteins, that are involved in the blood coagulation process. Clotting Factor,Coagulation Factors,Blood Coagulation Factor,Clotting Factors,Coagulation Factor,Coagulation Factor, Blood,Coagulation Factors, Blood,Factor, Coagulation,Factors, Coagulation,Factor, Blood Coagulation,Factor, Clotting,Factors, Blood Coagulation,Factors, Clotting
D001799 Blood Sedimentation Measurement of rate of settling of ERYTHROCYTES in blood. Erythrocyte Sedimentation,Erythrocyte Sedimentation Rate,Erythrocyte Sedimentation Rates,Rate, Erythrocyte Sedimentation,Rates, Erythrocyte Sedimentation,Sedimentation Rate, Erythrocyte,Sedimentation Rates, Erythrocyte,Sedimentation, Blood,Sedimentation, Erythrocyte
D001803 Blood Transfusion The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed) Blood Transfusions,Transfusion, Blood,Transfusions, Blood
D002836 Hemophilia B A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008) Christmas Disease,Factor IX Deficiency,Deficiency, Factor IX,F9 Deficiency,Haemophilia B,Hemophilia B Leyden,Hemophilia B(M),Plasma Thromboplastin Component Deficiency,Bs, Hemophilia,Deficiencies, F9,Deficiencies, Factor IX,Deficiency, F9,Disease, Christmas,F9 Deficiencies,Factor IX Deficiencies,Haemophilia Bs,Hemophilia Bs,Hemophilia Bs (M)
D005168 Factor VII Deficiency An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation. Hypoproconvertinemia,Deficiency, Factor 7,Deficiency, Factor Seven,Deficiency, Factor VII,Factor 7 Deficiency,Deficiencies, Factor 7,Deficiencies, Factor Seven,Deficiencies, Factor VII,Factor 7 Deficiencies,Factor Seven Deficiencies,Factor Seven Deficiency,Factor VII Deficiencies,Hypoproconvertinemias
D005177 Factor XIII Deficiency A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis. Deficiency, Factor 13,Deficiency, Factor Thirteen,Deficiency, Factor XIII,Factor 13 Deficiency,Factor Thirteen Deficiency,Deficiencies, Factor 13,Deficiencies, Factor Thirteen,Deficiencies, Factor XIII,Factor 13 Deficiencies,Factor Thirteen Deficiencies,Factor XIII Deficiencies
D005340 Fibrinogen Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products. Coagulation Factor I,Factor I,Blood Coagulation Factor I,gamma-Fibrinogen,Factor I, Coagulation,gamma Fibrinogen
D006467 Hemophilia A The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage. Factor VIII Deficiency,Hemophilia,Autosomal Hemophilia A,Classic Hemophilia,Deficiency, Factor VIII,Factor 8 Deficiency, Congenital,Factor VIII Deficiency, Congenital,Haemophilia,Hemophilia A, Congenital,Hemophilia, Classic,As, Autosomal Hemophilia,Autosomal Hemophilia As,Classic Hemophilias,Congenital Hemophilia A,Congenital Hemophilia As,Hemophilia A, Autosomal,Hemophilia As,Hemophilia As, Autosomal,Hemophilia As, Congenital,Hemophilias, Classic

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