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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:autosomal dominant sideroblastic anemia 4
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Accession:DOID:0060335 term browser browse the term
Definition:A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)
Synonyms:exact_synonym: SIDBA4;   sideroblastic anemia 4
 primary_id: MESH:C567160
 alt_id: OMIM:182170


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autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 OMIM
ClinVar		 PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      myelodysplastic syndrome 243
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal dominant sideroblastic anemia 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          bone marrow disease 778
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal dominant sideroblastic anemia 4 1
paths to the root