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pentalogy of Cantrell

Disease Summary
Associated Targets (0)

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Mondo Description Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
Mondo Term and Equivalent IDs
MONDO:0010742:  pentalogy of Cantrell
GARD:0007359: 
MESH:D058502: 
NCIT:C99011: 
Orphanet:1335: 
SCTID:281587000: 
UMLS:C0559483: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found