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Summary Literature (1)
DOID:0060639 - permanent neonatal diabetes mellitus

Disease Ontology Definition: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: PDMI, PNDM, permanent diabetes mellitus of infancy

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pdx1, ins, gck, abcc8, kcnj11

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neonatal diabetes mellitus (is_a)

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Version: 4.15.0
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