Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
adult progeria
|
| gptkbp:category |
hereditary cancer syndrome
progeroid syndromes |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Otto_Werner
1904 |
| https://www.w3.org/2000/01/rdf-schema#label |
Werner syndrome
|
| gptkbp:ICD-10_code |
E34.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
reduced
|
| gptkbp:MeSH_ID |
D014923
|
| gptkbp:mutationAssociatedWith |
gptkb:WRN_gene
|
| gptkbp:OMIM |
277700
|
| gptkbp:onset |
adolescence or early adulthood
|
| gptkbp:prevalence |
gptkb:Japan
rare |
| gptkbp:symptom |
gptkb:cataracts
gptkb:bone gptkb:diabetes_mellitus short stature increased cancer risk skin atrophy premature aging hair graying |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:RecQ_helicase
|
| gptkbp:bfsLayer |
6
|