Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Disease ID: disease_node_20025
Connections displayed (default: 10).
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| Dbxref | MIM:600001 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080015, DOID_225 |
| Data Source | DOID |
| 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 |
| Doid Label | pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20025 |
| Doid Id | DOID_0111733 |
| Disease Has Basis In | HP_0001197 |
| Label | Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease)