Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder rare disease |
| gptkbp:affects |
collagen synthesis
|
| gptkbp:alsoKnownAs |
gptkb:Osteogenesis_imperfecta_type_II
|
| gptkbp:category |
connective tissue disease
|
| gptkbp:cause |
mutation in COL1A1 gene
mutation in COL1A2 gene |
| gptkbp:diagnosedBy |
genetic testing
prenatal ultrasound |
| https://www.w3.org/2000/01/rdf-schema#label |
Vrolik syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
gptkb:Willem_Vrolik
|
| gptkbp:onset |
congenital
|
| gptkbp:prognosis |
lethal in perinatal period
|
| gptkbp:symptom |
short stature
blue sclerae bone fragility multiple fractures |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Jeff_"Joker"_Moreau
|
| gptkbp:bfsLayer |
6
|