| Metadata | |
|---|---|
| ID | DOID:0110129 | 
| Name | Bardet-Biedl syndrome 7 | 
| Definition | A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.  https://pubmed.ncbi.nlm.nih.gov/19797195/, https://www.ncbi.nlm.nih.gov/pubmed/12567324  | 
			    
                        
| Xrefs | |
| Subsets | 
                                
                                    
                                        
                                            
                                             DO_rare_slim  | 
                        
| Synonyms | 
                                
                                    
                                         BBS7 [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |