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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:Systemic Lupus Erythematosus 16
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Accession:DOID:9003353 term browser browse the term
Synonyms:exact_synonym: DNASE1L3-RELATED CONDITION;   SLEB16
 primary_id: MIM:614420


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Systemic Lupus Erythematosus 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: DNASE1L3-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus 16 OMIM
ClinVar		 PMID:21692081 PMID:22019780 PMID:24206041 PMID:25741868 PMID:27821515 More... NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        Inflammation 2842
          systemic lupus erythematosus 211
            Systemic Lupus Erythematosus 16 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        immune system disease 5071
          primary immunodeficiency disease 4479
            autoimmune disease 2377
              autoimmune disease of musculoskeletal system 1002
                lupus erythematosus 217
                  systemic lupus erythematosus 211
                    Systemic Lupus Erythematosus 16 1
paths to the root