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osteogenesis imperfecta type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0008147

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. [ Orphanet:216804 ]

Synonyms: perinatal lethal osteogenesis imperfecta congenita osteogenesis imperfecta type 2 lethal osteogenesis imperfecta osteogenesis imperfecta type II OI2 OI type 2 Vrolik type of osteogenesis imperfecta

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536042 (MONDO:equivalentTo)
  • UMLS:C0268358 (Orphanet:216804)
  • Orphanet:216804 (OMIM:166210)
  • GARD:10142 (Orphanet:216804)
  • DOID:0110341 (MONDO:equivalentTo)
  • SCTID:86470003 (MONDO:equivalentTo)
  • OMIM:166210 (Orphanet:216804/e)
  • NCIT:C99001 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C99001

http://linkedlifedata.com/resource/umls/id/C0268358

http://purl.obolibrary.org/obo/DOID_0110341

https://omim.org/entry/166210

http://identifiers.org/mesh/C536042

http://www.orpha.net/ORDO/Orphanet_216804

http://identifiers.org/snomedct/86470003

has related synonym

OI, type 2

Perinatally lethal OI

osteogenesis imperfecta congenita

osteogenesis imperfecta congenita perinatal lethal form

osteogenesis imperfecta, type 2

osteogenesis imperfecta congenita, perinatal lethal form

osteogenesis imperfecta, type II

id

MONDO:0008147

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008147