Disease

pancreatic hypoplasia-diabetes-congenital heart disease 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.

Synonyms

congenital heart defects and other congenital anomalies
congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease

Cross References

MIM:600001

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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