Term Name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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 )

Relationships
is a type of: autosomal dominant disease physical disorder syndrome