ONTOLOGY REPORT - ANNOTATIONS


Term:systemic scleroderma
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Accession:DOID:418 term browser browse the term
Definition:A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
Synonyms:exact_synonym: PSS;   progressive scleroderma;   progressive systemic sclerosis;   scleroderma syndrome;   systemic sclerosis
 primary_id: MESH:D012595
 alt_id: RDO:0003588
 xref: GARD:9748
For additional species annotation, visit the Alliance of Genome Resources.


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systemic scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:1331525
RGD:8548889
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449040
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:8695973
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8548889
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:7242029
G Arpc2 actin related protein 2/3 complex, subunit 2 JBrowse link 9 81,518,163 81,548,871 RGD:11049167
G Bank1 B-cell scaffold protein with ankyrin repeats 1 JBrowse link 2 241,273,763 241,545,527 RGD:9684975
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:5144060
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7421518
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661768
RGD:8661773
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4891453
RGD:5135284
RGD:5683876
G Ccl20 C-C motif chemokine ligand 20 JBrowse link 9 88,918,359 88,921,017 RGD:7483587
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:5683876
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5683876
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:9479741
G Ccr6 C-C motif chemokine receptor 6 JBrowse link 1 53,063,380 53,087,519 RGD:7483587
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:11554173
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:4892554
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7421518
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892666
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8898558
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688336
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:13592920
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:7257593
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4891898
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:4891898
RGD:9479741
RGD:4891896
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:5135279
RGD:5135284
G Cxcl16 C-X-C motif chemokine ligand 16 JBrowse link 10 57,060,005 57,064,600 RGD:5135279
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135279
RGD:5135284
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:5135279
G Cxcr6 C-X-C motif chemokine receptor 6 JBrowse link 8 132,869,712 132,870,766 RGD:5135279
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4145072
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585742
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8553058
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8553058
G F11r F11 receptor JBrowse link 13 89,826,272 89,850,151 RGD:7488918
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565087
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7387265
RGD:13592920
RGD:12910471
RGD:12904889
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:13592920
G Flt4 fms-related tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:8552335
G Fosl2 FOS like 2, AP-1 transcription factor subunit JBrowse link 6 25,598,936 25,616,995 RGD:13592920
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12798510
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548624
RGD:8548659
RGD:8548651
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:8695973
G Hnrnpl heterogeneous nuclear ribonucleoprotein L JBrowse link 1 86,994,090 87,006,776 RGD:9999440
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158120
RGD:8547587
RGD:8547576
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157622
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743606
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:5684369
RGD:8549502
RGD:5684371
RGD:5684370
G Il13ra1 interleukin 13 receptor subunit alpha 1 JBrowse link X 122,724,081 122,783,801 RGD:8549502
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8696037
RGD:8696038
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4142872
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:8662902
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663482
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:5096624
RGD:8549603
G Il27 interleukin 27 JBrowse link 1 198,003,615 198,010,112 RGD:5128477
G Il27ra interleukin 27 receptor subunit alpha JBrowse link 19 25,151,835 25,163,995 RGD:5128477
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5684371
RGD:7829819
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792238
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:7495782
G Irf5 interferon regulatory factor 5 JBrowse link 4 56,804,477 56,816,271 RGD:11554173
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7488920
RGD:7488937
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551843
RGD:8552335
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548796
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8548651
RGD:8693663
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693663
RGD:8693674
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1580577
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:4143496
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:5147680
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144060
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480691
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11541095
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5508306
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484551
RGD:7829741
G Rhob ras homolog family member B JBrowse link 6 33,689,127 33,691,301 RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547725
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11554173
G S1pr5 sphingosine-1-phosphate receptor 5 JBrowse link 8 22,268,635 22,273,708 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11343779
G Serpinf2 serpin family F member 2 JBrowse link 10 62,264,247 62,272,353 RGD:1625530
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:11554173
G Sirt7 sirtuin 7 JBrowse link 10 109,796,046 109,802,821 RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684940
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661700
RGD:11554173
RGD:8661711
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:13592920
G Tnip1 TNFAIP3 interacting protein 1 JBrowse link 10 40,255,776 40,303,092 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:5684416
RGD:8551843
RGD:8548659
RGD:7421579
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7205639
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
diffuse scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694418
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8548886
G Bank1 B-cell scaffold protein with ankyrin repeats 1 JBrowse link 2 241,273,763 241,545,527 RGD:9684975
G Cxcl6 C-X-C motif chemokine ligand 6 JBrowse link 14 18,860,201 18,920,839 RGD:5135258
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147984
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:5684371
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792275
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551850
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547725
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661701
RGD:8661714
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:1578361
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:1578361
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8553044
G Wrn Werner syndrome RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:10042980
limited scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661768
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8661733
G Ccr2 C-C motif chemokine receptor 2 RGD:8661733
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903974
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903974
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:4142872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:4892610
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551850
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483571
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208597
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661701
RGD:8661714
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:1578361
Reynolds Syndrome 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        systemic scleroderma 104
          Juvenile Systemic Scleroderma 0
          Juvenile-Onset Scleroderma 0
          Reynolds Syndrome 1
          Scleroderma, Familial Progressive 0
          diffuse scleroderma 14
          limited scleroderma + 13
          pulmonary systemic sclerosis 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Immune & Inflammatory Diseases 2988
        immune system disease 2414
          Autoimmune Diseases 1447
            autoimmune hypersensitivity disease 1162
              autoimmune disease of musculoskeletal system 814
                rheumatic disease 801
                  scleroderma 111
                    systemic scleroderma 104
                      Juvenile Systemic Scleroderma 0
                      Juvenile-Onset Scleroderma 0
                      Reynolds Syndrome 1
                      Scleroderma, Familial Progressive 0
                      diffuse scleroderma 14
                      limited scleroderma + 13
                      pulmonary systemic sclerosis 0
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.