Preferred Name |
Werner syndrome |
|
Synonyms |
Werner's syndrome |
|
Definitions |
OMIM mapping confirmed by DO. [LS]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_5688 |
|
comment |
OMIM mapping confirmed by DO. [LS]. |
|
database_cross_reference |
UMLS_CUI:C0043119 OMIM:277700 MESH:D014898 SNOMEDCT_US_2023_03_01:51626007 GARD:7885 NCI:C3447 ORDO:902 |
|
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. |
|
has exact synonym |
Werner's syndrome adult progeria adult premature ageing syndrome WS |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:5688 |
|
in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
label |
Werner syndrome |
|
notation |
DOID:5688 |
|
prefLabel |
Werner syndrome |
|
subClassOf |