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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:beta-thalassemia intermedia
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Accession:DOID:0080772 term browser browse the term
Definition:A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. (DO)
Synonyms:exact_synonym: thalassemia intermedia;   thalassemia intermedias
 xref: ORDO:231222


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beta-thalassemia intermedia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hemolytic anemia 347
        thalassemia 209
          beta thalassemia 140
            beta-thalassemia intermedia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          anemia 778
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 347
                  hemoglobinopathy 241
                    thalassemia 209
                      beta thalassemia 140
                        beta-thalassemia intermedia 1
paths to the root