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Summary Literature (1)
DOID:0111733 - pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Disease Ontology 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.

Synonyms: HDCA, PACHD, Yorifuji-Okuno syndrome, congenital heart defects and other congenital anomalies, congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease, pancreatic agenesis and congenital heart defects,

Xenbase Genes : gata6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), physical disorder (is_a), syndrome (is_a)