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Items: 2

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.

Colon perforation

A hole (perforation) in the wall of the colon. [from HPO]

MedGen UID:
87582
Concept ID:
C0347646
Disease or Syndrome

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