Statements (44)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:bone
|
| gptkbp:alsoKnownAs |
brittle bone disease
|
| gptkbp:causedBy |
mutation in COL1A1 gene
mutation in COL1A2 gene |
| gptkbp:complication |
respiratory problems
short stature scoliosis joint laxity bone deformity |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
gptkb:medicine
genetics orthopedics |
| gptkbp:firstDescribed |
gptkb:Willem_Vrolik
1849 |
| gptkbp:hasType |
Type I osteogenesis imperfecta
Type II osteogenesis imperfecta Type III osteogenesis imperfecta Type IV osteogenesis imperfecta |
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:prevalence |
1 in 15,000 to 20,000 births
|
| gptkbp:symptom |
hearing loss
blue sclerae bone fragility dentinogenesis imperfecta frequent fractures |
| gptkbp:treatment |
gptkb:bisphosphonates
orthopedic surgery physical therapy |
| gptkbp:bfsParent |
gptkb:chromosome_7
gptkb:The_Unbreakable_Boy gptkb:Ehlers-Danlos_syndrome gptkb:Kerry_Ingram gptkb:Fredrick_Brennan gptkb:Yoshikazu_Mera gptkb:collagen gptkb:Michel_Petrucciani gptkb:Elijah_Price gptkb:Atticus_Shaffer |
| gptkbp:bfsLayer |
6
|