OBO ID: DOID:0111733
Term Name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome Search Ontology:
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 )
OTHER pancreatic hypoplasia-diabetes-congenital heart disease syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA6 Pancreatic agenesis and congenital heart defects 600001
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None