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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
For additional species annotation, visit the Alliance of Genome Resources.


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sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          bone marrow disease 786
            Bone Marrow Neoplasms 473
              bone marrow cancer 473
                myelodysplastic syndrome 240
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
paths to the root