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Standards Ontologies Notations
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
Disease Ontology
DOID:2231
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2161 F12 coagulation factor XII
Displaying 1 entry
Gene ID Gene Symbol Description Source
58992 F12 coagulation factor XII (Hageman factor)
Displaying 1 entry
Gene ID Gene Symbol Description Source
306761 F12 coagulation factor XII
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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

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Last updated: December 9, 2024