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Beckwith-Wiedemann syndrome

Disease Summary
Associated Targets (6)
Tbio

5

Tclin

1


GARD Rare
Mondo Description Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
Uniprot Description A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
Disease Ontology Description A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Mondo Term and Equivalent IDs
MONDO:0007534:  Beckwith-Wiedemann syndrome
GARD:0003343: 
MESH:D001506: 
NCIT:C34415: 
Orphanet:116: 
SCTID:81780002: 
UMLS:C0004903: