| Metadata | |
|---|---|
| ID | DOID:0111733 |
| Name | pancreatic hypoplasia-diabetes-congenital heart disease 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. https://www.ncbi.nlm.nih.gov/pubmed/22158542, https://www.ncbi.nlm.nih.gov/pubmed/8071961 |
| Xrefs | |
| Synonyms |
congenital heart defects and other congenital anomalies [EXACT] congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease [EXACT] HDCA [EXACT] PACHD [EXACT] pancreatic agenesis and congenital heart defects [EXACT] Yorifuji-Okuno syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |