| 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/23553769, https://www.ncbi.nlm.nih.gov/pubmed/25193871 |
| Xrefs | |
| Synonyms |
SIFD [EXACT] |
| Parent Relationships |
is_a sideroblastic anemia |