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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:Discoid Lupus Erythematosus
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Accession:DOID:9006779 term browser browse the term
Definition:A chronic form of CUTANEOUS LUPUS ERYTHEMATOSUS in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur.
Synonyms:exact_synonym: Lupus Erythematosus, Chronic Cutaneous
 primary_id: MESH:D008179


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Discoid Lupus Erythematosus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:20701627 RGD:7421565 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr13:66,038,669...66,045,478 JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      skin disease 3704
        cutaneous lupus erythematosus 13
          Discoid Lupus Erythematosus 6
            Panniculitis, Lupus Erythematosus 0
            discoid lupus erythematosus of eyelid 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Immune & Inflammatory Diseases 4951
        immune system disease 4288
          primary immunodeficiency disease 3700
            autoimmune disease 1971
              autoimmune disease of musculoskeletal system 888
                lupus erythematosus 202
                  cutaneous lupus erythematosus 13
                    Discoid Lupus Erythematosus 6
                      Panniculitis, Lupus Erythematosus 0
                      discoid lupus erythematosus of eyelid 0
paths to the root