Term Name: | permanent neonatal diabetes mellitus |
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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 ) |