osteogenesis imperfecta type 7

Summary
Synonym
  • OI7
  • osteogenesis imperfecta type VII
Definition
An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.
Super Class
autosomal recessive disease osteogenesis imperfecta
Disease Ontology
DOID:0110337
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10491 CRTAP cartilage associated protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
56693 Crtap cartilage associated protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
178435 Y73F8A.26 Uncharacterized protein

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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