prothrombin deficiency

Summary
Synonym
  • Congenital factor II deficiency
  • Hereditary factor II deficiency disease
  • hypoprothrombinemia
Definition
A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
Super Class
autosomal recessive disease thrombophilia
Disease Ontology
DOID:2235
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2147 F2 coagulation factor II, thrombin
2155 F7 coagulation factor VII
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14061 F2 coagulation factor II
14068 F7 coagulation factor VII
Displaying 1 entry
Gene ID Gene Symbol Description Source
260320 F7 coagulation factor VII

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Last updated: December 9, 2024