pancreatic hypoplasia-diabetes-congenital heart disease syndrome (DOID:0111733)
Alliance: disease page
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
Alt IDs: OMIM:600001
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.