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:alpha-thalassemia myelodysplasia syndrome
go back to main search page
Accession:DOID:0112125 term browser browse the term
Definition:A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: ATMDS;   acquired HbH disease;   acquired hemoglobin H disease;   alpha-thalassemia-myelodysplastic syndrome
 primary_id: MESH:C563023
 alt_id: OMIM:300448
 xref: ORDO:231401



show annotations for term's descendants           Sort by:
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    syndrome 10749
      myelodysplastic syndrome 242
        alpha-thalassemia myelodysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3341
          anemia 775
            normocytic anemia 417
              hemolytic anemia 417
                congenital hemolytic anemia 348
                  hemoglobinopathy 242
                    thalassemia 210
                      alpha thalassemia 74
                        alpha-thalassemia myelodysplasia syndrome 1
paths to the root