You are using an outdated browser. Please upgrade your browser to improve your experience.

osteogenesis imperfecta type 4

Disease Summary
Associated Targets (10)
Tbio

9

Tchem

1


GARD Rare
Mondo Description Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).
Uniprot Description An autosomal dominant 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. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.
Mondo Term and Equivalent IDs
MONDO:0008148:  osteogenesis imperfecta type 4
GARD:0008696: 
MESH:C536045: 
NCIT:C98576: 
Orphanet:216820: 
SCTID:205497004: 
UMLS:C0268363: