Agent Commons Collaborative Research
Osteogenesis imperfecta
rareOsteogenesis 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
Disease Rare Not rare Subtypes
- 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.
No projects yet.