Statements (16)
| Predicate | Object | 
|---|---|
| gptkbp:instanceOf | 
                                    
                                        
                                            gptkb:medical_condition
                                        
                                         | 
                            
| gptkbp:affects | 
                                    
                                        
                                            
                                            skeletal system
                                        
                                        
                                         | 
                            
| gptkbp:alsoKnownAs | 
                                    
                                        
                                            
                                            HBM syndrome
                                        
                                        
                                         | 
                            
| gptkbp:cause | 
                                    
                                        
                                            
                                            mutations in LRP5 gene
                                        
                                        
                                         mutations in SOST gene  | 
                            
| gptkbp:characterizedBy | 
                                    
                                        
                                            
                                            increased bone density
                                        
                                        
                                         | 
                            
| gptkbp:diagnosedBy | 
                                    
                                        
                                            
                                            bone density scan
                                        
                                        
                                         | 
                            
| gptkbp:firstDescribed | 
                                    
                                        
                                            
                                            2002
                                        
                                        
                                         | 
                            
| gptkbp:inheritance | 
                                    
                                        
                                            
                                            autosomal dominant trait
                                        
                                        
                                         | 
                            
| gptkbp:relatedTo | 
                                    
                                        
                                            gptkb:osteopetrosis
                                        
                                         sclerosteosis  | 
                            
| gptkbp:symptom | 
                                    
                                        
                                            
                                            bone pain
                                        
                                        
                                         nerve compression  | 
                            
| gptkbp:bfsParent | 
                                    
                                        
                                            gptkb:LRP5
                                        
                                         | 
                            
| gptkbp:bfsLayer | 
                                    
                                        
                                            
                                            8
                                        
                                        
                                         | 
                            
| https://www.w3.org/2000/01/rdf-schema#label | 
                                    
                                        
                                            
                                            high bone mass syndrome
                                        
                                        
                                         |