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Summary Literature (1)
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 : stat3.1, pdx1, ins, gck, abcc8, stat3.2, kcnj11

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011643 - obsolete permanent neonatal diabetes mellitus

OMIM:
OMIM:606176 - DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1

Other Model Organisms: AGR, 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 mellitus (is_a)