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Weill-Marchesani syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018096

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. [ Orphanet:3449 ]

Term info

database cross reference
  • DOID:0050475 (MONDO:equivalentTo)
  • UMLS:C0265313 (Orphanet:3449/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • Orphanet:3449 (MONDO:equivalentTo)
  • OMIMPS:277600 (MONDO:equivalentTo)
  • MedDRA:10064963 (Orphanet:3449/e)
  • SCTID:2884008 (MONDO:equivalentTo)
  • MESH:D056846 (Orphanet:3449/e)
  • GARD:0004936 (MONDO:equivalentTo)
  • NCIT:C85226 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
WMS [ GARD:0004936 ]

closeMatch

http://identifiers.org/meddra/10064963

definition

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

exactMatch

http://identifiers.org/snomedct/2884008, http://identifiers.org/mesh/D056846, http://linkedlifedata.com/resource/umls/id/C0265313, http://purl.obolibrary.org/obo/Orphanet_3449, http://purl.obolibrary.org/obo/NCIT_C85226, http://purl.obolibrary.org/obo/DOID_0050475, https://omim.org/phenotypicSeries/PS277600

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020235, http://purl.obolibrary.org/obo/MONDO_0019066

has exact synonym

mesodermal Dysmorphodystrophy, congenital, spherophakia brachymorphia syndrome, spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, Marchesani-Weill syndrome

has related synonym

mesodermal dysmorphodystrophy congenital, WM syndrome, WMS

id

MONDO:0018096