loading...| Preferred Name |
Antithrombin III deficiency |
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| Synonyms |
AT3D |
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| Definitions |
(AT3D) - An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I - characterized by a 50% decrease in antigenic and functional levels. Type II - has defects affecting the thrombin-binding domain. Type III - alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV - consists of miscellaneous group of unclassifiable mutations. |
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| ID |
http://identifiers.org/omim/613118 |
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| altLabel |
AT3D |
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| definition |
(AT3D) - An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I - characterized by a 50% decrease in antigenic and functional levels. Type II - has defects affecting the thrombin-binding domain. Type III - alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV - consists of miscellaneous group of unclassifiable mutations. |
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| id |
OMIM:613118 |
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| notation |
OMIM:613118 |
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| prefLabel |
Antithrombin III deficiency |
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| subClassOf |