Term Name: | pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
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Synonyms: | congenital heart defects and other congenital anomalies, congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease, HDCA, PACHD, pancreatic agenesis and congenital heart defects, Yorifuji-Okuno syndrome |
Definition: | A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. |
Ontology: | Human Disease [DOID:0111733] ( DOID:0111733 ) |