sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Summary

DOID:0080209 - sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Disease Ontology 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.

Synonyms: SIFD,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), sideroblastic anemia (is_a)