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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
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          Hematologic Neoplasms 835
            hematologic cancer 835
              bone marrow cancer 351
                myelodysplastic syndrome 115
                  Refractory Anemia 31
                    sideroblastic anemia 20
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
paths to the root