osteogenesis imperfecta

Summary
Synonym
  • Lobstein's syndrome
  • Osteopsathyrosis
  • Vrolik's disease
  • brittle bone disease
Definition
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:12347
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
12153 Bmp1 bone morphogenetic protein 1
12842 Col1a1 collagen, type I, alpha 1
12843 Col1a2 collagen, type I, alpha 2
17128 Smad4 SMAD family member 4
102693 Phldb1 pleckstrin homology like domain, family B, member 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29393 Col1a1 collagen type I alpha 1 chain
84352 Col1a2 collagen type I alpha 2 chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source
42944 tok tolkin
42945 tld tolloid

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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