osteogenesis imperfecta type 6

Summary
Synonym
  • OI6
  • osteogenesis imperfecta type VI
Definition
An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.
Super Class
monogenic disease osteogenesis imperfecta
Disease Ontology
DOID:0110350
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5176 SERPINF1 serpin family F member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
20317 Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1

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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