| Metadata | |
|---|---|
| ID | DOID:0070497 | 
| Name | mitochondrial complex IV deficiency nuclear type 11 | 
| Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.  https://pubmed.ncbi.nlm.nih.gov/33751098/, https://pubmed.ncbi.nlm.nih.gov/24202787/  | 
			    
                        
| Xrefs | |
| SKOS | 
                                
                                    
                                        
                                            
					                            
                                                 exactMatch UMLS_CUI:C5436694 exactMatch MIM:619054  | 
                        
| Synonyms | 
                                
                                    
                                         MC4DN11 [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a COX deficiency, benign infantile mitochondrial myopathy  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |