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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:Alpha-Thalassemia Myelodysplasia Syndrome
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Accession:DOID:9000621 term browser browse the term
Synonyms:exact_synonym: ATMDS;   Hemoglobin H Disease, Acquired
 primary_id: MESH:C563023;   RDO:0012482
 alt_id: OMIM:300448
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:300448
ClinVar Annotator: match by term: Acquired hemoglobin H disease
OMIM
ClinVar
PMID:1415255, PMID:9326931, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:16118346, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Alpha-Thalassemia Myelodysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          anemia 405
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 133
                  hemoglobinopathy 100
                    thalassemia 69
                      alpha thalassemia 35
                        Alpha-Thalassemia Myelodysplasia Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.