Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 chr18:26,536,131...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 17289
    syndrome 8166
      myelodysplastic syndrome 236
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal dominant sideroblastic anemia 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          bone marrow disease 605
            Bone Marrow Neoplasms 469
              bone marrow cancer 469
                myelodysplastic syndrome 236
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal dominant sideroblastic anemia 4 1
paths to the root