Term Name: | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
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Synonyms: | SIFD |
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. |
Ontology: | Human Disease [DOID:0080209] ( DOID:0080209 ) |