DISEASES

Disease-gene associations mined from literature

Human genes for pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [DOID:0111733]

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.

Synonyms:  pancreatic hypoplasia-diabetes-congenital heart disease syndrome,  DOID:0111733,  pancreatic hypoplasiadiabetescongenital heart disease syndrome,  pancreatic hypoplasia-diabetes-congenital heart disease disease,  pancreatic hypoplasia-diabetes-congenital heart disease disorder ...