Kocher-Debre-Semelaigne syndrome
                        
                            GPTKB entity
                        
                    
                Statements (18)
| Predicate | Object | 
|---|---|
| gptkbp:instanceOf | 
                                    
                                        
                                            gptkb:syndrome
                                        
                                         | 
                            
| gptkbp:alsoKnownAs | 
                                    
                                        
                                            gptkb:Kocher-Debre-Semelaigne_myopathy
                                        
                                         | 
                            
| gptkbp:associatedWith | 
                                    
                                        
                                            
                                            congenital hypothyroidism
                                        
                                        
                                         | 
                            
| gptkbp:characterizedBy | 
                                    
                                        
                                            
                                            childhood hypothyroidism
                                        
                                        
                                         muscular pseudohypertrophy  | 
                            
| gptkbp:firstDescribed | 
                                    
                                        
                                            gptkb:Georges_Semelaigne
                                        
                                         gptkb:Robert_Debré gptkb:Emil_Theodor_Kocher  | 
                            
| gptkbp:onset | 
                                    
                                        
                                            
                                            childhood
                                        
                                        
                                         | 
                            
| gptkbp:rareDisease | 
                                    
                                        
                                            
                                            true
                                        
                                        
                                         | 
                            
| gptkbp:symptom | 
                                    
                                        
                                            
                                            muscle weakness
                                        
                                        
                                         macroglossia growth retardation mental retardation  | 
                            
| gptkbp:treatment | 
                                    
                                        
                                            
                                            thyroid hormone replacement
                                        
                                        
                                         | 
                            
| gptkbp:bfsParent | 
                                    
                                        
                                            gptkb:Emil_Theodor_Kocher
                                        
                                         | 
                            
| gptkbp:bfsLayer | 
                                    
                                        
                                            
                                            6
                                        
                                        
                                         | 
                            
| https://www.w3.org/2000/01/rdf-schema#label | 
                                    
                                        
                                            
                                            Kocher-Debre-Semelaigne syndrome
                                        
                                        
                                         |