FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ID (Ontology) DOID:0080209 (Human Disease)
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.
Also Known As "SIFD"
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 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay       1
 for disease ribbon | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay       1
 model of | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
microcytic anemia                |
 |__sideroblastic anemia_________|
                                 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  1 rec.
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Is a autosomal recessive disease
sideroblastic anemia
Part of
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Synonyms
  • "SIFD" EXACT OMO:0003012
Secondary IDs
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MIM:616084