Term Name: permanent neonatal diabetes mellitus
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.
Ontology: Human Disease [DOID:0060639]   ( DOID:0060639 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease neonatal diabetes