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Beckwith-Wiedemann syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007534

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. [ Orphanet:116 ]

Synonyms: Beckwith-Wiedemann syndrome Wiedemann-Beckwith syndrome BWS exomphalos-macroglossia-gigantism syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:845 (MONDO:NORD)
  • NANDO:2200959 (https://orcid.org/0000-0003-0011-764X)
  • GARD:3343 (MONDO:GARD)
  • MEDGEN:2562 (MONDO:equivalentTo)
  • SCTID:81780002 (MONDO:equivalentTo)
  • MedDRA:10050344 (Orphanet:116/e)
  • DOID:5572 (MONDO:equivalentTo)
  • UMLS:C0004903 (MONDO:equivalentTo)
  • NCIT:C34415 (MONDO:exact-label-match)
  • ICD9:759.89 (MONDO:relatedTo)
  • OMIM:130650 (Orphanet:116/e)
  • MESH:D001506 (Orphanet:116/e)
  • Orphanet:116 (OMIM:130650)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10050344

exactMatch

http://linkedlifedata.com/resource/umls/id/C0004903

http://identifiers.org/snomedct/81780002

http://www.orpha.net/ORDO/Orphanet_116

http://purl.obolibrary.org/obo/NCIT_C34415

http://identifiers.org/medgen/2562

http://identifiers.org/mesh/D001506

https://omim.org/entry/130650

http://purl.obolibrary.org/obo/DOID_5572

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

http://purl.obolibrary.org/obo/MONDO_0019721

http://purl.obolibrary.org/obo/MONDO_0015496

has related synonym

exomphalos macroglossia gigantism syndrome

Beckwith-Wiedemann syndrome chromosome region

EMG syndrome

Wiedemann-Beckwith syndrome (WBS)

id

MONDO:0007534

seeAlso

https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome