Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder osteogenesis imperfecta |
| gptkbp:affects |
skeletal system
|
| gptkbp:causedBy |
mutation in COL1A1 gene
mutation in COL1A2 gene |
| gptkbp:complication |
hearing impairment
bone fractures |
| gptkbp:firstDescribed |
1833
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lobstein's disease
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
Jean Lobstein
|
| gptkbp:OMIM |
166200
|
| gptkbp:symptom |
hearing loss
blue sclerae bone fragility dentinogenesis imperfecta |
| gptkbp:synonym |
osteogenesis imperfecta type I
|
| gptkbp:treatment |
gptkb:bisphosphonates
orthopedic surgery physical therapy |
| gptkbp:bfsParent |
gptkb:André_Lobstein
|
| gptkbp:bfsLayer |
8
|