| Metadata | |
|---|---|
| ID | DOID:14702 | 
| Name | branchiootorenal syndrome | 
| Definition | A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.  https://www.ncbi.nlm.nih.gov/pubmed/263442  | 
			    
                        
| Xrefs | 
                                
                                    
                                        
					                        
                                            
                                            
                                        
                                    
                                
                                    
                                        
					                        
                                            
                                            
                                        
                                    
                                
                                    
                                        
					                        
                                            
                                            
                                        
                                    
                                
                                    
                                        
					                        
                                             SNOMEDCT_US_2023_03_01:290006  | 
                        
| Subsets | 
                                
                                    
                                        
                                            
                                             DO_FlyBase_slim DO_rare_slim NCIthesaurus  | 
                        
| Synonyms | 
                                
                                    
                                         Branchio-Oto-renal syndrome [EXACT] Branchio-otorenal dysplasia [EXACT] branchiootorenal dysplasia [EXACT] Melnick-Fraser syndrome [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a autosomal dominant disease is_a syndrome  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal dominant inheritance  |