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Human Disease

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

Term ID
DOID:0080209
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. (2)
References
Ontology
Human Disease   ( DOID:0080209 )
Relationships
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Genes Involved
Zebrafish Models