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
Accession: DOID:5688
browse the term
Definition: A progeroid 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 .
G
Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:19741171
RGD:10402544
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Werner syndrome
ClinVar
PMID:25741868
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Purg
purine-rich element binding protein G
ISO
ClinVar Annotator: match by term: Werner syndrome
ClinVar
NCBI chr16:58,732,327...58,763,356
Ensembl chr16:58,720,335...58,763,359
G
Wrn
WRN RecQ like helicase
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Werner syndrome OMIM:277700
OMIM CTD ClinVar MouseDO RGD
PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 PMID:9225981 PMID:9241267 PMID:9450180 PMID:9536098 PMID:10069711 PMID:10189141 PMID:10220139 PMID:10347997 PMID:10543396 PMID:10628995 PMID:10811130 PMID:12244128 PMID:12827497 PMID:15355988 PMID:15489508 PMID:15609317 PMID:15888165 PMID:16199547 PMID:16673358 PMID:16786514 PMID:17478382 PMID:17576681 PMID:18205852 PMID:18414213 PMID:18810497 PMID:19763152 PMID:19824023 PMID:20157511 PMID:20301687 PMID:20307669 PMID:20443122 PMID:20657174 PMID:20802463 PMID:20855428 PMID:21267443 PMID:21389352 PMID:22188495 PMID:22406018 PMID:22766507 PMID:23045531 PMID:23583337 PMID:23849162 PMID:23936869 PMID:24033266 PMID:24429382 PMID:24728327 PMID:25018888 PMID:25059010 PMID:25182132 PMID:25390333 PMID:25619955 PMID:25637295 PMID:25741868 PMID:26296701 PMID:26344056 PMID:26546047 PMID:26689913 PMID:26695548 PMID:26901136 PMID:27084275 PMID:27153395 PMID:27559010 PMID:27667302 PMID:28202063 PMID:28276523 PMID:28492532 PMID:28795391 PMID:28861129 PMID:29753700 PMID:30140198 PMID:30891318 PMID:32041611 PMID:32359129 PMID:36292687 PMID:16673358 More...
RGD:1580825
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all