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ONTOLOGY REPORT - ANNOTATIONS


Term:sickle cell anemia
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Accession:DOID:10923 term browser browse the term
Definition:A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Synonyms:exact_synonym: Hb-SS disease without crisis;   HbS disease;   Hemoglobin S Diseases;   Sickle Cell Anemias;   Sickle Cell Disease;   Sickle Cell Diseases;   Sickle Cell Disorder;   drepanocytosis;   hemoglobin S disease;   hemoglobin S disease without crisis;   sickle cell disorders;   sickle-cell/Hb-C disease without crisis;   sickling disorder due to hemoglobin S
 related_synonym: HEMOGLOBIN D (IRAN);   HEMOGLOBIN KORLE-BU;   Hemoglobin Chori;   Hemoglobin Quebec-Chori
 primary_id: MESH:D000755
 alt_id: OMIM:603903;   RDO:0004838
 xref: NCI:C34383;   NCI:C34676
For additional species annotation, visit the Alliance of Genome Resources.


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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:11554173
RGD:8554872
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 Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
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
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
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
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 15619
    disease of anatomical entity 14948
      hematopoietic system disease 1451
        blood protein disease 234
          sickle cell anemia 43
            Hemoglobin SC Disease 0
            Sickle Cell Retinopathy 1
            Sickle Cell Trait 2
            Vaso-occlusive Crisis 5
            acute chest syndrome 6
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 125
                  hemoglobinopathy 94
                    sickle cell anemia 43
                      Hemoglobin SC Disease 0
                      Sickle Cell Retinopathy 1
                      Sickle Cell Trait 2
                      Vaso-occlusive Crisis 5
                      acute chest syndrome 6
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.