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ONTOLOGY REPORT - ANNOTATIONS


Term:beta thalassemia
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Accession:DOID:12241 term browser browse the term
Definition:A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Synonyms:exact_synonym: Anemia, Cooley;   Anemia, Cooleys;   Anemias, Erythroblastic;   BETA THALASSEMIA MAJOR;   Beta thalassemia intermedia;   Beta-thalassemia, lermontov type;   Cooley's Anemia;   Erythroblastic Anemia;   Hemoglobin F Disease;   Mediterranean Anemia;   Mediterranean Anemias;   Thalassemia Intermedia;   Thalassemia Intermedias;   Thalassemia Major;   Thalassemia Major (beta Thalassemia Major);   Thalassemia Majors (beta-Thalassemia Major);   Thalassemia Minor;   Thalassemia Minor (beta Thalassemia Minor);   Thalassemia Minors (beta-Thalassemia Minor);   beta Thalassemias;   beta Type Microcytemia;   beta Type Microcytemias;   beta Type Thalassemia;   beta Type Thalassemias;   beta0^ Thalassemia;   beta^0^ Thalassemia
 narrow_synonym: BETA-MALAY-THALASSEMIA;   BETA-THALASSEMIA DOMINANT;   Beta-Houston-thalassemia;   Beta-e-thalassemia
 related_synonym: HEMOGLOBIN AGENOGI;   HEMOGLOBIN E (SASKATOON);   HEMOGLOBIN HK;   HEMOGLOBIN HOFU;   HEMOGLOBIN HRADEC KRALOVE;   HEMOGLOBIN J (RAMBAM);   HEMOGLOBIN SAKI;   Hemoglobin Brescia;   Hemoglobin City of Hope;   Hemoglobin Durham-N.C.;   Hemoglobin J (Cambridge);   Hemoglobin MS;   Hemoglobin Mississippi;   Hemoglobin Siriraj
 primary_id: MESH:D017086;   RDO:0007022
 alt_id: OMIM:613985
 xref: GARD:871;   NCI:C34375;   ORDO:848
For additional species annotation, visit the Alliance of Genome Resources.


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beta thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:11038787
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11354944
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11039491
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11099969
RGD:11100011
RGD:11100008
RGD:11100005
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041572
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11041179
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:11554173
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450613
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352730
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11052141
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10755320
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041616
RGD:11554173
RGD:11041617
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:1600893
RGD:8554872
RGD:11554173
RGD:11353868
RGD:7240710
RGD:1600895
RGD:1600575
G Hbs1l HBS1-like translational GTPase JBrowse link 1 16,819,170 16,896,234 RGD:11353877
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:10755489
RGD:10755537
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041795
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743604
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11051969
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11041617
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:13592920
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552583
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041746
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038664
G Tfr2 transferrin receptor 2 JBrowse link 12 22,177,382 22,194,330 RGD:11062138
RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062138
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449458
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
Beta Thalassemia, Dominant Inclusion Body Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:7240710
RGD:8554872
Delta-Beta Thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:7240710
RGD:8554872
G Hbb-b1 hemoglobin, beta adult major chain JBrowse link 1 168,945,531 168,953,023 RGD:8554872
G Hbg1 hemoglobin subunit gamma 1 JBrowse link 1 168,992,841 168,994,219 RGD:7240710
RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:8554872
RGD:7240710
Thalassemia, Beta+, Silent Allele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11553831
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          congenital hemolytic anemia 124
            thalassemia 63
              beta thalassemia 32
                Beta Thalassemia, Dominant Inclusion Body Type 1
                Delta-Beta Thalassemia + 4
                Thalassemia, Beta+, Silent Allele 2
                Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1425
          anemia 374
            normocytic anemia 174
              hemolytic anemia 174
                congenital hemolytic anemia 124
                  hemoglobinopathy 93
                    thalassemia 63
                      beta thalassemia 32
                        Beta Thalassemia, Dominant Inclusion Body Type 1
                        Delta-Beta Thalassemia + 4
                        Thalassemia, Beta+, Silent Allele 2
                        Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 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.