pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Summary

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: 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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: 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)