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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:diffuse scleroderma
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Accession:DOID:1580 term browser browse the term
Definition:A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.
Synonyms:exact_synonym: Diffuse Cutaneous Systemic Sclerosis;   Diffuse Systemic Sclerosis;   Sudden Onset Scleroderma;   diffuse systemic scleroses;   sudden onset sclerodermas
 primary_id: MESH:D045743
 xref: EFO:0000404;   NCI:C116791
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
diffuse scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing severity IEP protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGT angiotensinogen IEP protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility IAGP DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G CAV1 caveolin 1 susceptibility
no_association		 IAGP DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
DNA:SNPs:enhancer, intron:multiple		 RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IEP RGD PMID:18432520 RGD:5135258 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G FCGR2A Fc gamma receptor IIa IDA RGD PMID:8254199 RGD:5147984 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G IL10 interleukin 10 IEP protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 IAGP DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL6 interleukin 6 treatment IEP RGD PMID:20338043 RGD:12792275 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 IAGP DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)		 RGD PMID:23755762 PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661701, RGD:8661714 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TLR2 toll like receptor 2 disease_progression IAGP DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G WRN WRN RecQ like helicase IDA RGD PMID:16906373 RGD:10042980 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      musculoskeletal system disease 23102
        autoimmune disease of musculoskeletal system 6920
          rheumatic disease 5036
            scleroderma 363
              systemic scleroderma 355
                diffuse scleroderma 25
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      Immune & Inflammatory Diseases 21360
        immune system disease 17253
          primary immunodeficiency disease 14712
            autoimmune disease 10859
              autoimmune disease of musculoskeletal system 6920
                rheumatic disease 5036
                  scleroderma 363
                    systemic scleroderma 355
                      diffuse scleroderma 25
paths to the root