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Leri-Weill dyschondrosteosis

^ http://purl.obolibrary.org/obo/MONDO_0007481

Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. [ Orphanet:240 ]

Term info

database cross reference
  • DOID:0060847 (MONDO:equivalentTo)
  • DECIPHER:58 (MONDO:equivalentTo)
  • Orphanet:240 (OMIM:127300)
  • UMLS:C0265309 (Orphanet:240/e)
  • GARD:0003224 (MONDO:equivalentTo)
  • ICD9:756.59 (MONDO:relatedTo)
  • NCIT:C126560 (MONDO:equivalentTo)
  • OMIM:127300 (Orphanet:240/e)
  • SCTID:17818006 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
LWD [ GARD:0003224 MONDO:Lexical DECIPHER:58 OMIM:127300 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948

definition

Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.

exactMatch

https://omim.org/entry/127300, http://identifiers.org/snomedct/17818006, http://purl.obolibrary.org/obo/NCIT_C126560, http://purl.obolibrary.org/obo/Orphanet_240, http://linkedlifedata.com/resource/umls/id/C0265309, http://purl.obolibrary.org/obo/DOID_0060847

has exact synonym

Léri-Weill syndrome, Leri-Weill dyschondrosteosis, Pseudoautosomal dominant, Leri-Weill syndrome, LWD, Leri Weill dyschondrosteosis, Leri-Weill dyschondrostosis, Leri-Weill dyschondrosteosis, Léri-Weill dyschondrosteosis

has related synonym

DCo, dyschondrosteosis, Madelung deformity

id

MONDO:0007481

seeAlso

https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis