OBO ID: DOID:5572
Term Name: Beckwith-Wiedemann syndrome Search Ontology:
Synonyms:
Definition: A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (3)
References:
  • GARD:3343
  • ICD10CM:Q87.3
  • MESH:D001506
  • NCI:C34415
  • OMIM:130650
  • ORDO:116
  • SNOMEDCT_US_2023_03_01:81780002
  • UMLS_CUI:C0004903
Ontology: Human Disease   ( DOID:5572 )
Relationships
is a type of:
OTHER Beckwith-Wiedemann syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDKN1C Beckwith-Wiedemann syndrome 130650
KCNQ1OT1 Beckwith-Wiedemann syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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