JSON

osteogenesis imperfecta type 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0008148

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). [ Orphanet:216820 ]

Synonyms: osteogenesis imperfecta type 4 osteogenesis imperfecta type IV OI4 osteogenesis imperfecta with normal sclera OI type 4

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:166220 (Orphanet:216820/e)
  • MESH:C536045 (Orphanet:216820/e)
  • NCIT:C98576 (MONDO:equivalentTo)
  • SCTID:205497004 (MONDO:equivalentTo)
  • DOID:0110340 (MONDO:equivalentTo)
  • GARD:8696 (Orphanet:216820)
  • Orphanet:216820 (OMIM:166220)
  • UMLS:C0268363 (Orphanet:216820/e)
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/DOID_0110340

http://identifiers.org/mesh/C536045

http://linkedlifedata.com/resource/umls/id/C0268363

https://omim.org/entry/166220

http://www.orpha.net/ORDO/Orphanet_216820

http://identifiers.org/snomedct/205497004

http://purl.obolibrary.org/obo/NCIT_C98576

has related synonym

osteogenesis imperfecta, type IV

osteogenesis imperfecta with normal sclerae

OI, type 4

OI type IV

common variable OI with normal sclerae

osteogenesis imperfecta, type 4

id

MONDO:0008148

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008148