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Items: 2

1.

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

This syndrome has characteristics of 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). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. [from SNOMEDCT_US]

MedGen UID:
444022
Concept ID:
C2931296
Disease or Syndrome
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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