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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. [ Orphanet:666 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0029434 (MONDO:equivalentTo)
  • DOID:12347 (MONDO:equivalentTo)
  • ICD9:756.51 (MONDO:i2s)
  • MedDRA:10031243 (Orphanet:666/e)
  • MESH:D010013 (Orphanet:666/e)
  • Orphanet:666 (MONDO:equivalentTo)
  • SCTID:78314001 (MONDO:equivalentTo)
  • NANDO:2201011 (https://orcid.org/0000-0003-0011-764X)
  • GARD:1017 (MONDO:GARD)
  • OMIMPS:166200 (MONDO:equivalentTo)
  • NORD:1535 (MONDO:NORD)
  • icd11.foundation:1219932551 (Orphanet:666)
  • NCIT:C26837 (MONDO:equivalentTo)
  • MEDGEN:45246 (MONDO:equivalentTo)
  • ICD10CM:Q78.0 (Orphanet:666/specific)
  • NANDO:1200873 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10031243

exactMatch

https://omim.org/phenotypicSeries/PS166200

http://identifiers.org/medgen/45246

http://identifiers.org/mesh/D010013

http://www.orpha.net/ORDO/Orphanet_666

http://purl.bioontology.org/ontology/ICD10CM/Q78.0

http://purl.obolibrary.org/obo/DOID_12347

http://identifiers.org/snomedct/78314001

http://purl.obolibrary.org/obo/NCIT_C26837

http://linkedlifedata.com/resource/umls/id/C0029434

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019704

has related synonym

Fragilitas ossium

Vrolik disease

id

MONDO:0019019

seeAlso

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

Term relations