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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 no_association
susceptibility
ISO DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147 RGD:8661768 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO RGD PMID:12925209 RGD:8661733 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:intron: (rs7574865) (human)
DNA:SNPs:introns: (rs10168266, rs3821236) (human)
RGD PMID:19286670 PMID:23755762 RGD:8661701 RGD:8661714 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr 7:25,045,085...25,056,915 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 chr 8:65,237,825...65,315,788
Ensembl chr 8:65,238,088...65,315,714
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14378
    disease of anatomical entity 14096
      musculoskeletal system disease 6491
        autoimmune disease of musculoskeletal system 810
          rheumatic disease 635
            scleroderma 109
              systemic scleroderma 102
                limited scleroderma 14
                  CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 14378
    disease of anatomical entity 14096
      Immune & Inflammatory Diseases 4481
        immune system disease 3936
          primary immunodeficiency disease 3337
            autoimmune disease 1896
              autoimmune disease of musculoskeletal system 810
                rheumatic disease 635
                  scleroderma 109
                    systemic scleroderma 102
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root