Preferred Name

osteogenesis imperfecta

Synonyms

Lobstein disease

Porak and Durante disease

Lobstein's syndrome

brittle bone disease

OI

Osteopsathyrosis

Vrolik's disease

glass bone disease

Vrolik disease

Fragilitas ossium

Definitions

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.

ID

http://purl.obolibrary.org/obo/MONDO_0019019

has_exact_synonym

Lobstein disease

Porak and Durante disease

Lobstein's syndrome

brittle bone disease

OI

Osteopsathyrosis

Vrolik's disease

glass bone disease

has_related_synonym

Vrolik disease

Fragilitas ossium

label

osteogenesis imperfecta

prefixIRI

MONDO:0019019

prefLabel

osteogenesis imperfecta

seeAlso

https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta

textual definition

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0005516

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