| Metadata | |
|---|---|
| ID | DOID:0081335 | 
| Name | Becker disease | 
| Definition | A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.  https://pubmed.ncbi.nlm.nih.gov/8301644/  | 
			    
                        
| Xrefs | |
| SKOS | 
                                
                                    
                                        
                                            
					                            
                                                 exactMatch MIM:255700  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a myotonia congenita  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |