Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 susceptibility
no_association
IAGP 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 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin RGD PMID:12925209 RGD:8661733 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G IL2 interleukin 2 susceptibility IAGP DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G JAK2 Janus kinase 2 IEP RGD PMID:20808962 RGD:4892610 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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 PGF placental growth factor IEP protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
IAGP DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:23755762 PMID:19286670 PMID:23755762 RGD:8661701, RGD:8661714, RGD:8661701 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
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
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C IDA associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:67,468,762...67,545,503
Ensembl chr 4:67,468,762...67,545,503
JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      musculoskeletal system disease 7929
        autoimmune disease of musculoskeletal system 989
          rheumatic disease 767
            scleroderma 119
              systemic scleroderma 112
                limited scleroderma 14
                  CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      Immune & Inflammatory Diseases 5386
        immune system disease 4750
          primary immunodeficiency disease 3990
            autoimmune disease 2259
              autoimmune disease of musculoskeletal system 989
                rheumatic disease 767
                  scleroderma 119
                    systemic scleroderma 112
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root