Search Ontology:
Human Disease
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Term ID
- DOID:0111733
- Synonyms
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- 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
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111733 )
- is a type of
-
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