| Metadata | |
|---|---|
| ID | DOID:0080209 | 
| Name | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 
| Definition | A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.  https://www.ncbi.nlm.nih.gov/pubmed/25193871, https://www.ncbi.nlm.nih.gov/pubmed/23553769  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         SIFD [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a sideroblastic anemia  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |