Preferred Name |
Antithrombin III deficiency |
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Synonyms |
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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://purl.obolibrary.org/obo/OMIM_613118 |
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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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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:613118 |
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label |
Antithrombin III deficiency |
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notation |
OMIM:613118 |
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prefLabel |
Antithrombin III deficiency |
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treeView | ||
subClassOf |