antithrombin III deficiency

Summary
Synonym
  • AT III deficiency
  • hereditary thrombophilia due to congenital antithrombin deficiency
Definition
A thrombophilia that is characterized by the tendency to form clots in the veins.
Super Class
autosomal dominant disease autosomal recessive disease thrombophilia
Disease Ontology
DOID:3755
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
462 SERPINC1 serpin family C member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11905 Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
45815 Spn27A Serpin 27A
49804 Spn88Ea Serpin 88Ea
49808 Spn42Dd Serpin 42Dd
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178585 srp-1 Serpin domain-containing protein
179195 srp-7 Serpin domain-containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024