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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Disease definition

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is 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).


Classification level: Disorder
  • Synonym(s):
    • Yorifuji-Okuno syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: Q87.8
  • OMIM: 600001
  • UMLS: C2931296
  • MeSH: -
  • GARD: 347
  • MedDRA: -
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