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Standards Ontologies Notations
Beckwith-Wiedemann syndrome

Summary
Definition
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Super Class
syndrome
Disease Ontology
DOID:5572
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6711 SPTBN1 spectrin beta, non-erythrocytic 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16535 Kcnq1 potassium voltage-gated channel, subfamily Q, member 1
20742 Sptbn1 spectrin beta, non-erythrocytic 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024