JSON

Werner syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010196

A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. [ Orphanet:902 ]

Synonyms: Werner's syndrome adult premature ageing syndrome Werner syndrome WS adult premature aging syndrome adult progeria

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:259.8 (MONDO:relatedTo)
  • NCIT:C3447 (MONDO:equivalentTo)
  • SCTID:51626007 (MONDO:equivalentTo)
  • NORD:1845 (MONDO:NORD)
  • MedDRA:10049429 (Orphanet:902/e)
  • DOID:5688 (MONDO:equivalentTo)
  • GARD:7885 (Orphanet:902)
  • OMIM:277700 (Orphanet:902/e)
  • Orphanet:902 (OMIM:277700)
  • UMLS:C0043119 (Orphanet:902/e)
  • MESH:D014898 (Orphanet:902/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10049429

exactMatch

http://linkedlifedata.com/resource/umls/id/C0043119

http://identifiers.org/mesh/D014898

http://identifiers.org/snomedct/51626007

http://purl.obolibrary.org/obo/DOID_5688

http://www.orpha.net/ORDO/Orphanet_902

https://omim.org/entry/277700

http://purl.obolibrary.org/obo/NCIT_C3447

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0019303

http://purl.obolibrary.org/obo/MONDO_0016382

id

MONDO:0010196

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010196