congenital afibrinogenemia

Summary
Synonym
  • Factor I deficiency
  • Fibrinogen deficiency
Definition
A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
Super Class
autosomal recessive disease blood coagulation disease physical disorder
External Links
Disease Ontology
DOID:2236
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3998 LMAN1 lectin, mannose binding 1
5091 PC pyruvate carboxylase
55768 NGLY1 N-glycanase 1
90411 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024