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DO Term : factor XI deficiency [DOID:2229] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
  • synonyms:
  • Hereditary factor XI deficiency disease,
  • SNOMEDCT_US_2023_03_01:49762007,
  • OMIM:612416,
  • ICD10CM:D68.1,
  • ICD9CM:286.2,
  • GARD:9670,
  • Congenital factor XI deficiency,
  • Rosenthal's disease,
  • 612416,
  • plasma thromboplastin antecedent deficiency,
  • MESH:D005173,
  • UMLS_CUI:C0015523,
  • NCI:C84705,
  • hemophilia C
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