ONTOLOGY REPORT - ANNOTATIONS


Term:Werner syndrome
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Accession:DOID:5688 term browser browse the term
Definition:An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
Synonyms:exact_synonym: Adult Progeria;   WRN;   WS;   Werner's Syndrome;   Werners syndrome;   adult premature ageing syndrome;   adult premature aging syndrome
 primary_id: MESH:D014898
 alt_id: OMIM:277700;   RDO:0002298
 xref: GARD:7885;   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 Werner syndrome RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:1580825
RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
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  disease 14875
    syndrome 4220
      Werner syndrome 4
        Peptide Growth Factors Deficiency 0
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                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.