Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Orpha code: 2255OMIM code: 600001

Definition

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).

Disease data
Classification

Disease

Synonyms
Yorifuji-Okuno syndrome
Zespół Yorifuji i Okuno syndrome
ORPHA code
2255
OMIM code
600001
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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