Bruck syndrome

Summary
Synonym
  • osteogenesis imperfecta with congenital joint contractures
Definition
A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
Super Class
syndrome
Disease Ontology
DOID:0060231
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5352 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
26432 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
39265 Plod procollagen lysyl hydroxylase
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: December 9, 2024