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ONTOLOGY REPORT - ANNOTATIONS


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
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Werner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10402544
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:12791031
G Purg purine-rich element binding protein G JBrowse link 16 62,427,933 62,483,295 RGD:8554872
G Wrn WRN RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:1580825
RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
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  disease 15984
    syndrome 6094
      Werner syndrome 4
        Peptide Growth Factors Deficiency 0
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                Werner syndrome 4
                  Peptide Growth Factors Deficiency 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.