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maturity-onset diabetes of the young type 6

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.
Uniprot Description A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Mondo Term and Equivalent IDs
MONDO:0011668:  maturity-onset diabetes of the young type 6
GARD:0010660: 
MESH:C565231: 
NCIT:C129745: 
SCTID:609573005: 
UMLS:C1853371: