| Metadata | |
|---|---|
| ID | DOID:0112118 | 
| Name | combined oxidative phosphorylation deficiency 42 | 
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.  https://pubmed.ncbi.nlm.nih.gov/30283131/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         COXPD42 [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |