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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
 alt_id: RDO:0006032
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Cd40 CD40 antigen ISO RGD PMID:18050371 RGD:8547765 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) treatment ISO DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr 8:67,494,875...67,502,644
Ensembl chr 8:67,494,858...67,502,584
JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr10:39,612,934...39,655,307
Ensembl chr10:39,612,934...39,655,307
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    sensory system disease 5053
      skin disease 2609
        cutaneous lupus erythematosus 17
          Discoid Lupus Erythematosus 8
            Panniculitis, Lupus Erythematosus 0
            discoid lupus erythematosus of eyelid 0
Path 2
Term Annotations click to browse term
  disease 14265
    disease of anatomical entity 13871
      Immune & Inflammatory Diseases 3304
        immune system disease 2746
          primary immunodeficiency disease 2219
            autoimmune disease 1517
              autoimmune disease of musculoskeletal system 881
                lupus erythematosus 209
                  cutaneous lupus erythematosus 17
                    Discoid Lupus Erythematosus 8
                      Panniculitis, Lupus Erythematosus 0
                      discoid lupus erythematosus of eyelid 0
paths to the root