| Metadata | |
|---|---|
| ID | DOID:0081237 | 
| Name | acromesomelic dysplasia 3 | 
| Definition | An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.  https://pubmed.ncbi.nlm.nih.gov/26105076/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         Demirhan-type acromesomelic dysplasia [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |