Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
bones
|
| gptkbp:alsoKnownAs |
brittle bone disease
|
| gptkbp:causedBy |
mutations in COL1A1 gene
mutations in COL1A2 gene |
| gptkbp:complication |
respiratory problems
bone deformities mobility limitations |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
gptkb:medicine
genetics orthopedics |
| gptkbp:firstDescribed |
gptkb:Willem_Vrolik
1849 |
| https://www.w3.org/2000/01/rdf-schema#label |
Osteogenesis Imperfecta
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:prevalence |
1 in 15,000 to 20,000 births
|
| gptkbp:symptom |
short stature
hearing loss dental problems joint laxity blue sclerae bone fragility frequent fractures |
| gptkbp:treatment |
gptkb:bisphosphonates
orthopedic surgery physical therapy assistive devices |
| gptkbp:type |
Type I
Type II Type III Type IV |
| gptkbp:bfsParent |
gptkb:Sammi_Haney
|
| gptkbp:bfsLayer |
6
|