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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:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        Inflammation 2763
          systemic lupus erythematosus 208
            Systemic Lupus Erythematosus 17 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            autoimmune disease 2321
              autoimmune disease of musculoskeletal system 994
                lupus erythematosus 214
                  systemic lupus erythematosus 208
                    Systemic Lupus Erythematosus 17 1
paths to the root