Search Ontology:
Human Disease

factor XI deficiency

Term ID
DOID:2229
Synonyms
  • Congenital factor XI deficiency
  • hemophilia C
  • Hereditary factor XI deficiency disease
  • plasma thromboplastin antecedent deficiency
  • Rosenthal's disease
Definition
A blood coagulation disease 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. (2)
References
  • GARD:9670
  • ICD10CM:D68.1
  • ICD9CM:286.2
  • MESH:D005173
  • MIM:612416
  • NCI:C84705
  • SNOMEDCT_US_2023_03_01:49762007
  • UMLS_CUI:C0015523
Ontology
Human Disease   ( DOID:2229 )
Relationships
is a type of
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Genes Involved
Zebrafish Models