Term Name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
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 )

Relationships
is a type of: autosomal recessive disease sideroblastic anemia