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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:localized scleroderma
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Accession:DOID:8472 term browser browse the term
Definition:A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.
Synonyms:exact_synonym: Circumscribed Scleroderma;   Frontal Linear Scleroderma en Coup de Sabre;   Linear Scleroderma;   Morphea;   Morpheas;   Scleroderma, circumscribed or localised;   circumscribed or localized scleroderma;   localised morphea;   localised morphoea;   localised scleroderma;   localized morphea;   localized sclerodermas
 primary_id: MESH:D012594
 alt_id: RDO:0000401
 xref: GARD:7058;   ICD10CM:L94.0;   ICD9CM:701.0;   NCI:C72069
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:29409814 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    sensory system disease 5700
      skin disease 3004
        localized scleroderma 11
          Juvenile Linear Scleroderma 0
          Juvenile-Onset Scleroderma 0
          Lipodermatosclerosis 1
          Sclerotylosis 1
          palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Immune & Inflammatory Diseases 4056
        immune system disease 3410
          primary immunodeficiency disease 2733
            autoimmune disease 1856
              autoimmune disease of musculoskeletal system 959
                rheumatic disease 748
                  scleroderma 118
                    localized scleroderma 11
                      Juvenile Linear Scleroderma 0
                      Juvenile-Onset Scleroderma 0
                      Lipodermatosclerosis 1
                      Sclerotylosis 1
                      palmoplantar keratoderma and congenital alopecia 2 0
paths to the root