| Metadata | |
|---|---|
| ID | DOID:0080761 | 
| Name | Fanconi renotubular syndrome 5 | 
| Definition | A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.  https://pubmed.ncbi.nlm.nih.gov/27466185/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         Acadian-variant Fanconi syndrome [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a Fanconi syndrome  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |