Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:cause |
joint pain
skin abnormalities vascular problems |
| gptkbp:causedBy |
genetic disorder
autoimmune reaction |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing biopsy |
| https://www.w3.org/2000/01/rdf-schema#label |
collagen-related disorders
|
| gptkbp:includes |
gptkb:Stickler_syndrome
gptkb:Alport_syndrome gptkb:Marfan_syndrome Ehlers-Danlos syndrome Osteogenesis imperfecta Collagen VI-related myopathies |
| gptkbp:symptom |
easy bruising
fragile skin bone fragility hyperflexible joints |
| gptkbp:treatment |
physical therapy
pain management genetic counseling surgical intervention |
| gptkbp:bfsParent |
gptkb:COL1A2_gene
|
| gptkbp:bfsLayer |
7
|