factor XI deficiency

Summary
Synonym
  • Congenital factor XI deficiency
  • Hereditary factor XI deficiency disease
  • Rosenthal's disease
  • hemophilia C
  • plasma thromboplastin antecedent deficiency
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.
Super Class
autosomal genetic disease blood coagulation disease
Disease Ontology
DOID:2229
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2160 F11 coagulation factor XI
Displaying 1 entry
Gene ID Gene Symbol Description Source
109821 F11 coagulation factor XI

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024