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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:20701627 RGD:7421565 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Nat2 N-acetyltransferase 2 treatment ISO DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      skin disease 4197
        cutaneous lupus erythematosus 15
          Discoid Lupus Erythematosus 8
            Panniculitis, Lupus Erythematosus 0
            discoid lupus erythematosus of eyelid 0
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Immune & Inflammatory Diseases 5741
        immune system disease 4930
          primary immunodeficiency disease 4306
            autoimmune disease 2365
              autoimmune disease of musculoskeletal system 1000
                lupus erythematosus 215
                  cutaneous lupus erythematosus 15
                    Discoid Lupus Erythematosus 8
                      Panniculitis, Lupus Erythematosus 0
                      discoid lupus erythematosus of eyelid 0
paths to the root