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osteogenesis imperfecta type 9

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009805:  osteogenesis imperfecta type 9
GARD:0010619: 
MESH:C564921: