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ONTOLOGY REPORT - ANNOTATIONS


Term:hemoglobinopathy
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Accession:DOID:2860 term browser browse the term
Definition:A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Synonyms:exact_synonym: hemoglobinopathies
 related_synonym: Hb Footscray;   Hemoglobin Adana;   Hemoglobin Aghia Sophia;   Hemoglobin Agrinio;   Hemoglobin Clinico-Madrid;   Hemoglobin Footscray;   Hemoglobin Icaria;   Hemoglobin Sallanches;   abnormal hemoglobin;   hemoglobin Val de Marne
 primary_id: MESH:D006453
 alt_id: RDO:0004839
 xref: GARD:12455
For additional species annotation, visit the Alliance of Genome Resources.


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hemoglobinopathy 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
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:8554872
RGD:11554173
RGD:10449038
acute chest syndrome 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:10450838
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450838
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:10449047
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755560
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533931
RGD:11533934
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075233
RGD:11075235
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
Congenital Methemoglobinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:11352693
RGD:11352695
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 C disease 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:1600890
RGD:8554872
hemoglobin E disease 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
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
methemoglobinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:1599659
G Cyb5r3 cytochrome b5 reductase 3 JBrowse link 7 124,024,003 124,041,564 RGD:1599771
RGD:11554173
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10755319
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:11554173
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11554173
Methemoglobinemia Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:7240710
RGD:8554872
Methemoglobinemia, Alpha-Globin Type 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
Methemoglobinemia, Beta-Globin 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
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5r3 cytochrome b5 reductase 3 JBrowse link 7 124,024,003 124,041,564 RGD:7240710
RGD:8554872
RGD:11040533
sickle cell anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904674
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11354943
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11099970
RGD:11100007
RGD:11099996
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040773
RGD:11040777
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893506
RGD:11041114
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352270
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041159
RGD:11041160
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11352749
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:11554173
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565074
RGD:11565080
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341683
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352756
RGD:11352775
RGD:11352757
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11059503
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450863
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:1600892
RGD:8554872
RGD:11554173
RGD:7240710
G Hbe1 hemoglobin subunit epsilon 1 JBrowse link 1 169,003,904 169,005,184 RGD:11353858
RGD:11353860
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:11353884
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:12904674
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755563
RGD:10755565
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11554173
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11046271
G Il5 interleukin 5 JBrowse link 10 39,066,716 39,069,587 RGD:11354938
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:10412315
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449403
RGD:10449420
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533647
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:5685653
RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11541101
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483588
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11553835
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041761
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:6219007
G Spta1 spectrin, alpha, erythrocytic 1 JBrowse link 13 92,264,231 92,340,091 RGD:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11062147
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449460
RGD:11554173
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11554173
Sickle Cell Retinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554869
Sickle Cell Trait 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 Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:5147416
RGD:5147440
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
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
Vaso-occlusive Crisis 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:10450860
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450838
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11530044
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533931
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:11100023

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          congenital hemolytic anemia 123
            hemoglobinopathy 92
              hemoglobin C disease 1
              hemoglobin D disease 0
              hemoglobin E disease 1
              methemoglobinemia + 6
              sickle cell anemia + 42
              thalassemia + 62
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      Hemic and Lymphatic Diseases 1592
        hematopoietic system disease 1376
          anemia 369
            normocytic anemia 173
              hemolytic anemia 173
                congenital hemolytic anemia 123
                  hemoglobinopathy 92
                    hemoglobin C disease 1
                    hemoglobin D disease 0
                    hemoglobin E disease 1
                    methemoglobinemia + 6
                    sickle cell anemia + 42
                    thalassemia + 62
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.