prothrombin deficiency

Term ID

DOID:2235

Synonyms

• Congenital factor II deficiency
• 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. (4)

References

• MESH:C562724
• NCI:C26799
• OMIM:613679
• ORDO:325
• SNOMEDCT_US_2023_03_01:33297000
• UMLS_CUI:C0272317

Ontology

Human Disease   ( DOID:2235 )