Preferred Name

osteogenesis imperfecta type 3
Synonyms

osteogenesis imperfecta, progressively deforming with normal sclerae

osteogenesis imperfecta, type 3

OI, type 3

osteogenesis imperfecta, progressively deforming, with normal sclerae

OI type III

osteogenesis imperfecta, type III

Oi3

progressively deforming OI

osteogenesis imperfecta type III

progressive deforming osteogenesis imperfecta

OI type 3

progressively deforming osteogenesis imperfecta with normal sclera

OI3

severe osteogenesis imperfecta

osteogenesis imperfecta type 3

Definitions

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).

ID

http://purl.obolibrary.org/obo/MONDO_0009804

altLabel

osteogenesis imperfecta, progressively deforming with normal sclerae

osteogenesis imperfecta, type 3

OI, type 3

osteogenesis imperfecta, progressively deforming, with normal sclerae

OI type III

osteogenesis imperfecta, type III

Oi3

progressively deforming OI

osteogenesis imperfecta type III

progressive deforming osteogenesis imperfecta

OI type 3

progressively deforming osteogenesis imperfecta with normal sclera

OI3

severe osteogenesis imperfecta

osteogenesis imperfecta type 3

definition

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).

has_exact_synonym

osteogenesis imperfecta type III

progressive deforming osteogenesis imperfecta

OI type 3

progressively deforming osteogenesis imperfecta with normal sclera

OI3

severe osteogenesis imperfecta

osteogenesis imperfecta type 3

has_related_synonym

osteogenesis imperfecta, progressively deforming with normal sclerae

osteogenesis imperfecta, type 3

OI, type 3

osteogenesis imperfecta, progressively deforming, with normal sclerae

OI type III

osteogenesis imperfecta, type III

Oi3

progressively deforming OI

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

label

osteogenesis imperfecta type 3

prefixIRI

MONDO:0009804

prefLabel

osteogenesis imperfecta type 3

textual definition

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).

subClassOf

http://purl.obolibrary.org/obo/MONDO_0800064

Delete Subject Author Type Created
No notes to display