| Metadata | |
|---|---|
| ID | DOID:0080962 | 
| Name | anauxetic dysplasia 2 | 
| Definition | A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.  https://pubmed.ncbi.nlm.nih.gov/28067412/  | 
			    
                        
| Xrefs | |
| Subsets | 
                                
                                    
                                        
                                            
                                             DO_rare_slim  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a anauxetic dysplasia  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |