FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pancreatic hypoplasia-diabetes-congenital heart disease syndrome ID (Ontology) DOID:0111733 (Human Disease)
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.
Also Known As "congenital heart defects and other congenital anomalies" ; "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" ; "HDCA" (for all, see Synonyms field below)
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 Genes
 pancreatic hypoplasia-diabetes-congenital heart disease syndrome       3
 for disease ribbon | pancreatic hypoplasia-diabetes-congenital heart disease syndrome       3
 model of | pancreatic hypoplasia-diabetes-congenital heart disease syndrome       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__physical disorder___________|
 |__syndrome____________________|
                                pancreatic hypoplasia-diabetes-congenital heart disease syndrome  3 rec.
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Is a autosomal dominant disease
physical disorder
syndrome
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Synonyms
  • "congenital heart defects and other congenital anomalies" EXACT
    "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" EXACT
    "HDCA" EXACT OMO:0003012
    "PACHD" EXACT OMO:0003012
    "pancreatic agenesis and congenital heart defects" EXACT
    "Yorifuji-Okuno syndrome" EXACT
Secondary IDs
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MIM:600001