factor XII deficiency

Summary
Synonym
  • Factor XII deficiency disease
  • Hageman Factor deficiency
  • deficiency, Hageman
Definition
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
Super Class
autosomal recessive disease blood coagulation disease
External Links
Disease Ontology
DOID:2231
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
80055 PGAP1 post-GPI attachment to proteins inositol deacylase 1
Related Glycoprotein

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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