Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:Osteogenesis_Imperfecta_Type_II
|
| gptkbp:causedBy |
mutations in COL1A1 gene
mutations in COL1A2 gene |
| gptkbp:characterizedBy |
brittle bones
multiple fractures at birth |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Vrolik Syndrome
|
| gptkbp:ICD-10_code |
gptkb:Q78.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
gptkb:Willem_Vrolik
|
| gptkbp:symptom |
short stature
bone deformities blue sclerae perinatal lethality |
| gptkbp:treatment |
supportive care
orthopedic management |
| gptkbp:bfsParent |
gptkb:Jeff_'Joker'_Moreau
|
| gptkbp:bfsLayer |
6
|