OBO ID: DOID:0080209
Term Name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Search Ontology:
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)
OTHER sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 616084
PHENOTYPE No data available

CITATIONS (1)