pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Term ID

DOID:0111733

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. (2)

References

• OMIM:600001

Ontology

Human Disease   ( DOID:0111733 )