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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:Reynolds Syndrome
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Accession:DOID:9003114 term browser browse the term
Synonyms:exact_synonym: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA
 primary_id: OMIM:613471
 alt_id: RDO:0009897
For additional species annotation, visit the Alliance of Genome Resources.



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Reynolds Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425 PMID:25348816 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr13:93,539,360...93,564,065 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Reynolds Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Immune & Inflammatory Diseases 4014
        immune system disease 3376
          primary immunodeficiency disease 2712
            autoimmune disease 1845
              autoimmune disease of musculoskeletal system 953
                rheumatic disease 743
                  scleroderma 118
                    systemic scleroderma 111
                      Reynolds Syndrome 1
paths to the root