Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 3
Definition
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).
Also known as OI type 3, OI3, osteogenesis imperfecta type 3, osteogenesis imperfecta type III, progressive deforming osteogenesis imperfecta, severe osteogenesis imperfecta — per MONDO
Also identified as
- DOID 0110339 per MONDO
- MESH C536044 per MONDO
- NCIT C99002 per MONDO
- OMIM 259420 per MONDO
- Orphanet 216812 per MONDO
- SCTID 385483009 per MONDO
- UMLS C0268362 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone element | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Bone element | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Connective tissue | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |