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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:Werner syndrome
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Accession:DOID:5688 term browser browse the term
Definition:A syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. (DO)
Synonyms:exact_synonym: WRN;   WS;   Werner's syndrome;   Werners syndrome;   adult premature ageing syndrome;   adult premature aging syndrome;   adult progeria
 primary_id: MESH:D014898
 alt_id: OMIM:277700
 xref: GARD:7885;   NCI:C3447;   ORDO:902
For additional species annotation, visit the Alliance of Genome Resources.


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Werner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:19741171 RGD:10402544 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Lmna lamin A/C ISO atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) RGD PMID:12927431 RGD:12791031 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Purg purine-rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr16:62,427,933...62,483,295
Ensembl chr16:62,481,685...62,483,137
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by OMIM:277700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Werner syndrome
OMIM
ClinVar
CTD
PMID:8037212, PMID:8602509, PMID:8968742, PMID:9012406, PMID:9048918, PMID:9225981, PMID:9241267, PMID:9450180, PMID:10069711, PMID:10220139, PMID:10347997, PMID:10543396, PMID:10628995, PMID:10811130, PMID:11420665, PMID:12244128, PMID:12827497, PMID:15489508, PMID:15609317, PMID:15888165, PMID:16673358, PMID:16786514, PMID:17478382, PMID:18414213, PMID:18810497, PMID:19824023, PMID:20157511, PMID:20301687, PMID:20443122, PMID:20657174, PMID:20802463, PMID:20855428, PMID:21267443, PMID:21389352, PMID:22188495, PMID:22766507, PMID:23045531, PMID:23849162, PMID:23936869, PMID:24033266, PMID:24429382, PMID:24463507, PMID:24728327, PMID:25018888, PMID:25182132, PMID:25390333, PMID:25637295, PMID:25741868, PMID:25927356, PMID:26296701, PMID:26344056, PMID:26546047, PMID:26695548, PMID:27084275, PMID:27153395, PMID:27559010, PMID:27667302, PMID:28202063, PMID:28492532, PMID:28795391, PMID:30311386, PMID:16673358 RGD:1580825 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Werner syndrome 4
        Peptide Growth Factors Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Werner syndrome 4
                  Peptide Growth Factors Deficiency 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.