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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: progressive scleroderma;   progressive systemic sclerosis;   scleroderma syndrome;   systemic sclerosis
 primary_id: MESH:D012595
 xref: GARD:9748;   ICD10CM:M34.0;   ICD10CM:M34.9;   ICD9CM:710.1;   NCI:C72070
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 9 11,497,182 11,516,362 RGD:9068941
G ACTA2 actin alpha 2, smooth muscle JBrowse link 26 38,700,434 38,714,915 RGD:9068941
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link 9 49,839,252 49,867,295 RGD:9068941
G AGER advanced glycosylation end-product specific receptor JBrowse link 12 1,574,251 1,577,410 RGD:9068941
G AGT angiotensinogen JBrowse link 4 8,681,192 8,694,059 RGD:9068941
G ANXA5 annexin A5 JBrowse link 19 18,419,936 18,450,088 RGD:9068941
G ARPC2 actin related protein 2/3 complex subunit 2 JBrowse link 37 24,914,389 24,935,998 RGD:9068941
G BANK1 B cell scaffold protein with ankyrin repeats 1 JBrowse link 32 23,322,654 23,603,233 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G C3 complement C3 JBrowse link 20 53,566,226 53,598,365 RGD:9068941
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCL20 C-C motif chemokine ligand 20 JBrowse link 25 40,506,385 40,509,903 RGD:9068941
G CCL4 chemokine (C-C motif) ligand 4 JBrowse link 9 37,681,342 37,682,691 RGD:9068941
G CCN1 cellular communication network factor 1 JBrowse link 6 62,443,285 62,446,246 RGD:9068941
G CCN2 cellular communication network factor 2 JBrowse link 1 25,508,082 25,511,058 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 20 42,305,344 42,313,258 RGD:9068941
G CCR6 C-C motif chemokine receptor 6 JBrowse link 1 54,932,798 54,960,646 RGD:9068941
G CD247 CD247 molecule JBrowse link 7 30,961,169 30,972,143 RGD:9068941
G CD86 CD86 molecule JBrowse link 33 25,256,267 25,318,855 RGD:9068941
G CFB complement factor B JBrowse link 12 1,400,143 1,406,267 RGD:9068941
G CHI3L1 chitinase 3 like 1 JBrowse link 7 25,620 32,954 RGD:9068941
G CLU clusterin JBrowse link 25 29,982,811 29,999,565 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 9 26,183,852 26,199,927 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 14 19,883,731 19,919,527 RGD:9068941
G CSF1 colony stimulating factor 1 JBrowse link 6 42,028,454 42,047,028 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 2 59,022,794 59,032,095 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 23 8,937,069 8,954,738 RGD:9068941
G CXCL10 C-X-C motif chemokine ligand 10 JBrowse link 32 598,406 599,925 RGD:9068941
G CXCL16 C-X-C motif chemokine ligand 16 JBrowse link 5 31,816,889 31,820,975 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 55,882,433 55,884,582 RGD:9068941
G CXCR6 C-X-C motif chemokine receptor 6 JBrowse link 20 42,565,251 42,569,647 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G ELN elastin JBrowse link 6 6,299,524 6,331,425 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 1 42,081,952 42,368,544 RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 8 38,645,917 38,715,347 RGD:9068941
G F11R F11 receptor JBrowse link 38 21,433,819 21,456,722 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 18 42,782,744 42,799,531 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:9068941
G FLT4 fms related receptor tyrosine kinase 4 JBrowse link 11 1,145,643 1,184,097 RGD:9068941
G FSTL1 follistatin like 1 JBrowse link 33 23,892,317 23,914,406 RGD:9068941
G HDAC5 histone deacetylase 5 JBrowse link 9 19,261,075 19,297,669 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G HMGB1 high mobility group box 1 JBrowse link 25 9,431,223 9,558,167 RGD:9068941
G HNRNPL heterogeneous nuclear ribonucleoprotein L JBrowse link 1 114,267,195 114,279,107 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 20 50,818,715 50,827,914 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL13RA1 interleukin 13 receptor subunit alpha 1 JBrowse link X 90,925,497 90,981,855 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL1R1 interleukin 1 receptor type 1 JBrowse link 10 40,825,986 40,897,898 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL23R interleukin 23 receptor JBrowse link 5 43,307,422 43,369,806 RGD:9068941
G IL27 interleukin 27 JBrowse link 6 18,243,988 18,248,369 RGD:9068941
G IL27RA interleukin 27 receptor subunit alpha JBrowse link 20 48,456,766 48,475,414 RGD:9068941
G IL4 interleukin 4 JBrowse link 11 20,972,693 20,981,539 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G IRF5 interferon regulatory factor 5 JBrowse link 14 7,724,168 7,734,976 RGD:9068941
G JAM3 junctional adhesion molecule 3 JBrowse link 5 1,082,619 1,165,188 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G LTA lymphotoxin alpha JBrowse link 12 1,070,608 1,073,053 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 5 28,978,385 28,986,644 RGD:9068941
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) JBrowse link 5 28,949,631 28,957,915 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 7 42,338,939 42,344,690 RGD:9068941
G NECTIN2 nectin cell adhesion molecule 2 JBrowse link 1 110,543,140 110,569,168 RGD:9068941
G NGF nerve growth factor JBrowse link 17 52,900,647 52,901,607 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 12 1,585,249 1,608,721 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 9 12,166,124 12,219,553 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 7 19,668,079 19,674,903 RGD:9068941
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 17 51,623,628 51,683,039 RGD:9068941
G RHOB ras homolog family member B JBrowse link 17 15,438,744 15,439,793 RGD:9068941
G S1PR5 sphingosine-1-phosphate receptor 5 JBrowse link 20 50,641,585 50,646,938 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SERPINF2 serpin family F member 2 JBrowse link 9 45,876,076 45,883,777 RGD:9068941
G SIRT1 sirtuin 1 JBrowse link 4 19,188,616 19,220,031 RGD:9068941
G SIRT7 sirtuin 7 JBrowse link 9 377,141 383,355 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 37 25,039,203 25,047,461 RGD:9068941
G STAT4 signal transducer and activator of transcription 4 JBrowse link 37 1,566,563 1,685,378 RGD:9068941
G TNIP1 TNFAIP3 interacting protein 1 JBrowse link 4 58,150,734 58,200,158 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
G VWF von Willebrand factor JBrowse link 27 38,834,812 38,972,614 RGD:9068941
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPC centromere protein C JBrowse link 13 58,013,218 58,091,347 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:9068941
diffuse scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 34 19,398,310 19,410,519 RGD:9068941
G AGT angiotensinogen JBrowse link 4 8,681,192 8,694,059 RGD:9068941
G BANK1 B cell scaffold protein with ankyrin repeats 1 JBrowse link 32 23,322,654 23,603,233 RGD:9068941
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G IL10 interleukin 10 JBrowse link 7 5,933,285 5,937,057 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 121,853,340 121,862,582 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G LOC106557449 alveolar macrophage chemotactic factor-like JBrowse link 13 62,514,244 62,516,439 RGD:9068941
G STAT4 signal transducer and activator of transcription 4 JBrowse link 37 1,566,563 1,685,378 RGD:9068941
G TAP1 transporter 1, ATP binding cassette subfamily B member JBrowse link 12 2,424,049 2,432,165 RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 12 2,407,512 2,417,469 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 15 51,454,557 51,465,429 RGD:9068941
G WRN WRN RecQ like helicase JBrowse link 16 33,164,662 33,304,466 RGD:9068941
limited scleroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 20 42,305,344 42,313,258 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G FASLG Fas ligand JBrowse link 7 26,335,837 26,344,224 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 1 93,321,055 93,438,898 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G PGF placental growth factor JBrowse link 8 48,059,554 48,110,534 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G STAT4 signal transducer and activator of transcription 4 JBrowse link 37 1,566,563 1,685,378 RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 12 2,407,512 2,417,469 RGD:9068941
Reynolds Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 7 39,289,517 39,309,026 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12604
    disease of anatomical entity 12146
      musculoskeletal system disease 4970
        autoimmune disease of musculoskeletal system 729
          rheumatic disease 611
            scleroderma 106
              systemic scleroderma 99
                Familial Progressive Scleroderma 0
                Juvenile Systemic Scleroderma 0
                Juvenile-Onset Scleroderma 0
                Reynolds Syndrome 1
                diffuse scleroderma 15
                limited scleroderma + 14
                pulmonary systemic sclerosis 0
Path 2
Term Annotations click to browse term
  disease 12604
    disease of anatomical entity 12146
      Immune & Inflammatory Diseases 2825
        immune system disease 2330
          Autoimmune Diseases 1145
            autoimmune hypersensitivity disease 970
              autoimmune disease of musculoskeletal system 729
                rheumatic disease 611
                  scleroderma 106
                    systemic scleroderma 99
                      Familial Progressive Scleroderma 0
                      Juvenile Systemic Scleroderma 0
                      Juvenile-Onset Scleroderma 0
                      Reynolds Syndrome 1
                      diffuse scleroderma 15
                      limited scleroderma + 14
                      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.