ONTOLOGY REPORT - ANNOTATIONS


Term:thalassemia
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Accession:DOID:10241 term browser browse the term
Definition:A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Synonyms:exact_synonym: Sickle-cell thalassemia with crisis;   Sickle-cell thalassemia without crisis;   thalassemia Hb-S disease with crisis;   thalassemia Hb-S disease without crisis;   thalassemias
 related_synonym: HEMOGLOBIN J (BALTIMORE);   Hemoglobin Lepore (Augusta);   Hemoglobin Lepore (Baltimore);   Hemoglobin Lepore (Boston);   Hemoglobin Lepore (Hollandia);   Hemoglobin Lepore (Washington);   Hemoglobin Lepore Trait;   Hemoglobin Pylos;   hemoglobin Karatsu;   hemoglobin Riyadh
 primary_id: MESH:D013789
 alt_id: RDO:0006685
 xref: GARD:7756
For additional species annotation, visit the Alliance of Genome Resources.


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thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12798507
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:8554872
G Hbb-b1 hemoglobin, beta adult major chain JBrowse link 1 168,945,531 168,953,023 RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:10450569
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A JBrowse link 1 101,511,899 101,515,043 RGD:13592920
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450569
alpha thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352811
G Hba-a1 hemoglobin alpha, adult chain 1 JBrowse link 10 15,602,794 15,603,649 RGD:10449442
RGD:11353869
RGD:10755575
RGD:10755570
RGD:10755568
RGD:10755567
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:1599361
RGD:8554872
RGD:11554173
RGD:7240710
RGD:10449442
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11353869
RGD:8554872
RGD:11554173
G Hbq1b hemoglobin subunit theta 1B JBrowse link 10 15,599,821 15,602,680 RGD:8554872
G Hbz hemoglobin subunit zeta JBrowse link 10 15,609,348 15,610,826 RGD:8554872
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041792
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:9586030
RGD:9586029
RGD:9586027
Alpha-Thalassemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:8554872
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:8554872
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:1600575
RGD:1600895
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
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 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
Delta-Thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb-b1 hemoglobin, beta adult major chain JBrowse link 1 168,945,531 168,953,023 RGD:8554872
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872
RGD:9588626
hemoglobin H disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:7240710
RGD:8554872
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11036098
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Ctsa cathepsin A JBrowse link 3 161,298,750 161,304,627 RGD:8554872
G Dnah14 dynein axonemal heavy chain 14 JBrowse link 13
13
99,886,373
101,936,210
100,072,674
101,973,640
RGD:8554872
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 6 24,770,308 24,985,711 RGD:8554872
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143453
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Ubn1 ubinuclein 1 JBrowse link 10 10,690,224 10,725,655 RGD:8554872
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
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 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          congenital hemolytic anemia 123
            thalassemia 62
              Delta-Thalassemia + 4
              alpha thalassemia + 29
              beta thalassemia + 32
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          anemia 367
            normocytic anemia 172
              hemolytic anemia 172
                congenital hemolytic anemia 123
                  hemoglobinopathy 92
                    thalassemia 62
                      Delta-Thalassemia + 4
                      alpha thalassemia + 29
                      beta thalassemia + 32
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.