factor VII deficiency

Summary
Synonym
  • deficiency, stable
Definition
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
Super Class
autosomal recessive disease blood coagulation disease
External Links
Disease Ontology
DOID:2215
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
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

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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: August 19, 2024