DISEASES

Disease-gene associations mined from literature

Human genes for permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus [DOID:0060639]

A neonatal diabetes mellitus that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.

Synonyms:  permanent neonatal diabetes mellitus,  DOID:0060639,  permanent neonatal diabetes mellituses,  permanent neonatal diabetes melliti,  PDMI ...