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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 17
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Accession:DOID:9001314 term browser browse the term
Definition:An X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Caused by heterozygous mutation in the TLR7 gene on chromosome Xp22.
Synonyms:exact_synonym: SLEB17
 primary_id: OMIM:301080


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Systemic Lupus Erythematosus 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR7 toll like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus 17 OMIM
ClinVar		 PMID:28492532 PMID:35477763 NCBI chr  X:9,573,178...9,576,987 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Immune & Inflammatory Diseases 4952
        Inflammation 2397
          systemic lupus erythematosus 196
            Systemic Lupus Erythematosus 17 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Immune & Inflammatory Diseases 4952
        immune system disease 4289
          primary immunodeficiency disease 3701
            autoimmune disease 1973
              autoimmune disease of musculoskeletal system 888
                lupus erythematosus 202
                  systemic lupus erythematosus 196
                    Systemic Lupus Erythematosus 17 1
paths to the root