permanent neonatal diabetes mellitus

Term ID

DOID:0060639

Synonyms

• PDMI
• permanent diabetes mellitus of infancy
• PNDM

Definition

A neonatal diabetes 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. https://www.ncbi.nlm.nih.gov/pubmed/17213273

References

• GARD:10457
• OMIM:606176

Ontology

Human Disease   ( DOID:0060639 )