Terminology Service for NFDI4Health
osteogenesis imperfecta
Go to external page
http://purl.obolibrary.org/obo/MONDO_0019019
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. [ ]
Term info
Label
osteogenesis imperfecta
Synonyms
- Lobstein disease
- Lobstein's syndrome
- OI
- Osteopsathyrosis
- Porak and Durante disease
- Vrolik's disease
- brittle bone disease
- glass bone disease
Subsets
gard_rare, ordo_disease
closeMatch
http://identifiers.org/meddra/10031243
exactMatch
http://purl.obolibrary.org/obo/Orphanet_666, https://omim.org/phenotypicSeries/PS166200, http://identifiers.org/mesh/D010013, http://purl.obolibrary.org/obo/DOID_12347, https://icd.codes/icd10cm/Q78.0, http://identifiers.org/snomedct/78314001, http://linkedlifedata.com/resource/umls/id/C0029434, http://purl.obolibrary.org/obo/NCIT_C26837
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0019704
has related synonym
Fragilitas ossium, Vrolik disease
id
MONDO:0019019
see also
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta