RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
Congenital Heart Defects, and Other Congenital Anomalies; HDCA; PACHD; Yorifuji-Okuno syndrome; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; pancreatic agenesis and congenital heart defects; pancreatic hypoplasia-diabetes-heart disease