| Disease ID | Source | Name | Description |
| 610968 | OMIM | Osteogenesis imperfecta 11 (OI11) | 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. OI11 is an autosomal recessive form. The disease is caused by variants affecting the gene represented in this entry. |
| 259450 | OMIM | Bruck syndrome 1 (BRKS1) | A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. The disease is caused by variants affecting the gene represented in this entry. |