osteogenesis imperfecta type 3

Summary
Synonym
  • OI3
  • osteogenesis imperfecta type III
  • progressively deforming osteogenesis imperfecta with normal sclera
Definition
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Super Class
autosomal dominant disease osteogenesis imperfecta
External Links
Disease Ontology
DOID:0110339
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
249 ALPL alkaline phosphatase, biomineralization associated
570 BAAT bile acid-CoA:amino acid N-acyltransferase
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
1634 DCN decorin
5743 PTGS2 prostaglandin-endoperoxide synthase 2
55512 SMPD3 sphingomyelin phosphodiesterase 3
57104 PNPLA2 patatin like phospholipase domain containing 2

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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