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osteogenesis imperfecta type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0008146

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. [ Orphanet:216796 ]

Synonyms: non-deforming osteogenesis imperfecta osteogenesis imperfecta type 1 Adair-Dighton syndrome OI1 Van der Hoeve syndrome osteogenesis imperfecta type I OI type 1 mild osteogenesis imperfecta

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:385482004 (MONDO:equivalentTo)
  • GARD:8694 (Orphanet:216796)
  • Orphanet:216796 (OMIM:166200)
  • OMIM:166200 (Orphanet:216796/e)
  • DOID:0110334 (MONDO:equivalentTo)
  • UMLS:C0023931 (OMIM:166200)
  • NCIT:C99003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

comment

Editor note: we follow ordo and place van der hoeve as exact synonym

exactMatch

http://purl.obolibrary.org/obo/NCIT_C99003

http://www.orpha.net/ORDO/Orphanet_216796

https://omim.org/entry/166200

http://purl.obolibrary.org/obo/DOID_0110334

http://linkedlifedata.com/resource/umls/id/C0023931

http://identifiers.org/snomedct/385482004

has related synonym

OI, type 1

osteogenesis imperfecta, type I

osteogenesis imperfecta tarda

classic non-deforming OI with blue sclerae

osteogenesis imperfecta with blue sclerae

osteogenesis imperfecta, type 1

id

MONDO:0008146

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008146