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1.

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). [from ORDO]

MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
2.

Total absence of the pericardium

No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. [from HPO]

MedGen UID:
576786
Concept ID:
C0345140
Congenital Abnormality

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