JSON

osteogenesis imperfecta

^ 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. [ Orphanet:666 ]

Term info

database cross reference
  • OMIMPS:166200 (MONDO:equivalentTo)
  • GARD:0001017 (MONDO:equivalentTo)
  • ICD9:756.51 (MONDO:i2s)
  • DOID:12347 (MONDO:equivalentTo)
  • SCTID:78314001 (MONDO:equivalentTo)
  • NCIT:C26837 (MONDO:equivalentTo)
  • MESH:D010013 (Orphanet:666/e)
  • MedDRA:10031243 (Orphanet:666/e)
  • Orphanet:666 (MONDO:equivalentTo)
  • UMLS:C0029434 (Orphanet:666/e)
  • ICD10CM:Q78.0 (Orphanet:666/specific)
Subsets

gard_rare, ordo_disease

abbreviation
OI [ Orphanet:666 ]

closeMatch

http://identifiers.org/meddra/10031243

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_666, https://omim.org/phenotypicSeries/PS166200, http://identifiers.org/mesh/D010013, http://purl.bioontology.org/ontology/ICD10CM/Q78.0, http://purl.obolibrary.org/obo/DOID_12347, 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 exact synonym

Lobstein's syndrome, Osteopsathyrosis, brittle bone disease, glass bone disease, OI, Porak and Durante disease, Lobstein disease, Vrolik's disease

has related synonym

Fragilitas ossium, Vrolik disease

id

MONDO:0019019

seeAlso

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