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DO Term : prothrombin deficiency [DOID:2235] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hypoprothrombinemia,
  • Congenital factor II deficiency,
  • SNOMEDCT_US_2023_03_01:33297000,
  • MESH:C562724,
  • 613679,
  • Factor II deficiency,
  • UMLS_CUI:C0272317,
  • NCI:C26799,
  • OMIM:613679,
  • ORDO:325,
  • Hereditary factor II deficiency disease
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