FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term factor XI deficiency ID (Ontology) DOID:2229 (Human Disease)
Definition 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.
Also Known As "Congenital factor XI deficiency" ; "hemophilia C" ; "Hereditary factor XI deficiency disease" (for all, see Synonyms field below)
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 Genes
 factor XI deficiency       1
 for disease ribbon | factor XI deficiency       1
 model of | factor XI deficiency       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
blood coagulation disease      |
 |__hemophilia_________________|
                               factor XI deficiency  1 rec.
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Is a autosomal genetic disease
hemophilia
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Synonyms
  • "Congenital factor XI deficiency" EXACT
    "hemophilia C" EXACT
    "Hereditary factor XI deficiency disease" EXACT
    "plasma thromboplastin antecedent deficiency" EXACT
    "Rosenthal's disease" EXACT
Secondary IDs
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GARD:9670
ICD10CM:D68.1
ICD9CM:286.2
MESH:D005173
MIM:612416
NCI:C84705
SNOMEDCT_US_2023_03_01:49762007
UMLS_CUI:C0015523