osteogenesis imperfecta type 2
ORPHA: 216804
Overview
osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:216804osteogenesis imperfecta type 2
| Orphanet | ORPHA:216804 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO