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ONTOLOGY REPORT - ANNOTATIONS


Term:sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
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Accession:DOID:0080209 term browser browse the term
Definition:An autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. (OMIM)
Synonyms:exact_synonym: SIFD
 primary_id: OMIM:616084
 alt_id: RDO:9001555
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sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      primary immunodeficiency disease 1115
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          Hematologic Neoplasms 820
            hematologic cancer 820
              bone marrow cancer 336
                myelodysplastic syndrome 110
                  Refractory Anemia 27
                    sideroblastic anemia 16
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
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