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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 major
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Accession:DOID:0080771 term browser browse the term
Definition:A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. (DO)
Synonyms:exact_synonym: BETA-KNOSSOS-THALASSEMIA;   Beta-Plus-Thalassemia;   Beta-Showa-Yakushiji Thalassemia;   Cooley anemia;   Cooley's Anemia;   Cooleys anemia;   Thalassemia Major;   beta+ thalassemia, silent allele;   beta-E-thalassemia;   beta-thal/Hb E;   beta-thalassemia hemoglobin E;   thalassemia major (beta thalassemia major)
 narrow_synonym: BETA-PLUS-THALASSEMIA, DOMINANT
 related_synonym: Double heterozygous for Hb E and beta thalassaemia;   HEMOGLOBIN CAGLIARI;   HEMOGLOBIN DHOFAR;   HEMOGLOBIN DHONBURI;   HEMOGLOBIN KNOSSOS;   HEMOGLOBIN MALAY;   HEMOGLOBIN NEAPOLIS;   HEMOGLOBIN NORTH SHORE;   HEMOGLOBIN NORTH SHORE-CARACAS;   HEMOGLOBIN TERRE HAUTE;   HEMOGLOBIN YUKUHASHI;   Hemoglobin E;   Hemoglobin Showa-Yakushiji
 primary_id: MESH:C566065
 alt_id: OMIM:187550
 xref: NCI:C129699;   ORDO:231214


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beta-thalassemia major term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E		 ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:49057 PMID:81926 More...
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    physical disorder 5002
      congenital hemolytic anemia 360
        thalassemia 219
          beta thalassemia 150
            beta-thalassemia major 2
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      Hemic and Lymphatic Diseases 3780
        hematopoietic system disease 3278
          anemia 787
            normocytic anemia 431
              hemolytic anemia 431
                congenital hemolytic anemia 360
                  hemoglobinopathy 252
                    thalassemia 219
                      beta thalassemia 150
                        beta-thalassemia major 2
paths to the root