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permanent neonatal diabetes mellitus

Disease Summary
Associated Targets (7)
Tbio

3

Tclin

2

Tchem

2


GARD Rare
Mondo Description Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0100164:  permanent neonatal diabetes mellitus
GARD:0010457: 
NCIT:C114902: 
OMIMPS:606176: 
Orphanet:99885: 
SCTID:609565001: 
UMLS:C1833104: