| Disease ID | Source | Name | Description |
| 259440 | OMIM | Osteogenesis imperfecta 9 (OI9) | A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder. The disease is caused by variants affecting the gene represented in this entry. |