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pancreatic hypoplasia-diabetes-congenital heart disease syndrome (DOID:0111733)
Alliance: disease page
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
Alt IDs: OMIM:600001
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory