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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
For additional species annotation, visit the Alliance of Genome Resources.


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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, autosomal dominant ClinVar
OMIM
PMID:3653362 PMID:26491070 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      myelodysplastic syndrome 115
        sideroblastic anemia 20
          autosomal dominant sideroblastic anemia 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          Hematologic Neoplasms 838
            Bone Marrow Neoplasms 351
              bone marrow cancer 351
                myelodysplastic syndrome 115
                  Refractory Anemia 31
                    sideroblastic anemia 20
                      autosomal dominant sideroblastic anemia 4 1
paths to the root