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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:limited scleroderma
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Accession:DOID:1577 term browser browse the term
Definition:The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma.
Synonyms:exact_synonym: limited cutaneous systemic sclerosis;   limited systemic scleroderma;   limited systemic sclerodermas;   limited systemic sclerosis
 primary_id: MESH:D045745
 alt_id: RDO:0007065
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein susceptibility
no_association
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 6:17,306,287...17,341,327
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 IMP
IEP
mRNA,protein:increased expression:skin: RGD PMID:12925209 PMID:12925209 RGD:8661733, RGD:8661733 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IEP mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) IMP RGD PMID:17102953 RGD:12903974 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) IMP RGD PMID:17102953 RGD:12903974 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr12:85,213,411...85,224,559
Ensembl chr12:85,213,409...85,224,564
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 IEP mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Stat4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:23755762 PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661701, RGD:8661714 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc1 centromere protein C1 ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 5:86,159,877...86,214,325
Ensembl chr 5:86,159,883...86,213,442
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15244
    disease of anatomical entity 14892
      musculoskeletal system disease 6809
        autoimmune disease of musculoskeletal system 899
          rheumatic disease 690
            scleroderma 118
              systemic scleroderma 111
                limited scleroderma 14
                  CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 15244
    disease of anatomical entity 14892
      Immune & Inflammatory Diseases 4767
        immune system disease 4179
          primary immunodeficiency disease 3536
            autoimmune disease 2033
              autoimmune disease of musculoskeletal system 899
                rheumatic disease 690
                  scleroderma 118
                    systemic scleroderma 111
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root