Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 1
Definition
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Also known as Adair-Dighton syndrome, COL1A1-related osteogenesis imperfecta, mild osteogenesis imperfecta, non-deforming osteogenesis imperfecta, OI type 1, OI1, osteogenesis imperfecta type 1, osteogenesis imperfecta type I, Van der Hoeve syndrome — per MONDO
Also identified as
- DOID 0110334 per MONDO
- NCIT C99003 per MONDO
- OMIM 166200 per MONDO
- Orphanet 216796 per MONDO
- SCTID 385482004 per MONDO
- UMLS C0023931 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 |