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

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      primary immunodeficiency disease 930
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          bone marrow disease 393
            Bone Marrow Neoplasms 282
              bone marrow cancer 282
                myelodysplastic syndrome 110
                  Refractory Anemia 25
                    sideroblastic anemia 14
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.