Search Ontology:
Human Disease

pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Term ID
DOID:0111733
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
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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