Osteogenesis imperfecta

rare

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.

Identifiers: MONDO:0019019 Orphanet:666
Part of: Osteochondrodysplasia
Also known as: brittle bone disease · glass bone disease · Lobstein disease · OI · Osteopsathyrosis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Osteogenesis imperfecta and a reduction of bone mineral density.	MONDO:0800064	33
Brittle bone disorder	MONDO:0011375	1
COL1A2-related osteogenesis imperfecta	MONDO:0100596		COL1A2
High bone mass osteogenesis imperfecta	MONDO:0017791
Osteogenesis imperfecta type 13	MONDO:0013924		BMP1
Osteogenesis imperfecta, type 20	MONDO:0032846		MESD
Osteogenesis imperfecta, type 21	MONDO:0030861		KDELR2
Osteogenesis imperfecta, type 23	MONDO:0957988		PHLDB1
Osteogenesis imperfecta, type XXII	MONDO:0030714		CCDC134
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	MONDO:0017196

Projects

Including projects on subtypes.

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