permanent neonatal diabetes mellitus

Summary

DOID:0060639 - permanent neonatal diabetes mellitus

Disease Ontology 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.

Synonyms: PDMI, PNDM, permanent diabetes mellitus of infancy,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: stat3, pdx1, ins, gck, abcc8, stat3.2, kcnj11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011643 - obsolete permanent neonatal diabetes mellitus

MONDO:0011643 - obsolete permanent neonatal diabetes mellitus

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), neonatal diabetes (is_a)