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Metadata
DOID DOID:0060639
Name permanent neonatal diabetes mellitus
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.
https://www.ncbi.nlm.nih.gov/pubmed/17213273
Synonyms

PDMI [EXACT]

permanent diabetes mellitus of infancy [EXACT]

PNDM [EXACT]

Xrefs

GARD:10457

OMIM:606176

Relationships

is_a neonatal diabetes mellitus

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