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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	OMIM:616084
Synonyms	SIFD [EXACT]
Parent Relationships	is_a sideroblastic anemia is_a autosomal recessive disease