| Metadata | |
|---|---|
| ID | DOID:0111600 | 
| Name | distal arthrogryposis type 2B1 | 
| Definition | A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.  https://www.ncbi.nlm.nih.gov/pubmed/12592607  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         DA2B1 [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal dominant inheritance  |