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Metadata
ID DOID:5688
Name Werner syndrome
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.
https://en.wikipedia.org/wiki/Werner_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15946710, https://www.ncbi.nlm.nih.gov/pubmed/9288107
Xrefs

GARD:7885

MESH:D014898

NCI:C3447

OMIM:277700

ORDO:902

SNOMEDCT_US_2019_09_01:51626007

UMLS_CUI:C0043119

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

adult premature ageing syndrome [EXACT]

adult progeria [EXACT]

Werner's syndrome [EXACT]

WS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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