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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
 xref: EFO:1001017
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
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD PMID:22402147 RGD:8661768 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:12925209 RGD:8661733 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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 ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr13:58,013,218...58,091,347
Ensembl chr13:58,013,212...58,231,200
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      musculoskeletal system disease 7720
        autoimmune disease of musculoskeletal system 894
          rheumatic disease 687
            scleroderma 116
              systemic scleroderma 109
                limited scleroderma 14
                  CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Immune & Inflammatory Diseases 5002
        immune system disease 4332
          primary immunodeficiency disease 3731
            autoimmune disease 1990
              autoimmune disease of musculoskeletal system 894
                rheumatic disease 687
                  scleroderma 116
                    systemic scleroderma 109
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root