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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;   circumscribed or localised scleroderma;   circumscribed or localized scleroderma;   localised morphea;   localised morphoea;   localised scleroderma;   localized morphea;   localized sclerodermas
 primary_id: MESH:D012594
 xref: EFO:1001361;   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
disabling pansclerotic morphea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:37256972 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities		 OMIM
CTD
ClinVar		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... 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 18969
    sensory system disease 6961
      skin disease 3968
        localized scleroderma 12
          Juvenile Linear Scleroderma 0
          Juvenile-Onset Scleroderma 0
          Lipodermatosclerosis 1
          Sclerotylosis 1
          disabling pansclerotic morphea 1
          palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          primary immunodeficiency disease 4151
            autoimmune disease 2325
              autoimmune disease of musculoskeletal system 999
                rheumatic disease 785
                  scleroderma 124
                    localized scleroderma 12
                      Juvenile Linear Scleroderma 0
                      Juvenile-Onset Scleroderma 0
                      Lipodermatosclerosis 1
                      Sclerotylosis 1
                      disabling pansclerotic morphea 1
                      palmoplantar keratoderma and congenital alopecia 2 0
paths to the root