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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: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. (DO)
Synonyms:exact_synonym: SIFD
 primary_id: MIM:616084


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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 19065
    syndrome 11171
      primary immunodeficiency disease 4299
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      Hemic and Lymphatic Diseases 4037
        hematopoietic system disease 3526
          bone marrow disease 839
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
paths to the root