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maturity-onset diabetes of the young type 1

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.
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:0007452:  maturity-onset diabetes of the young type 1
GARD:0003418: 
MESH:C565101: 
NCIT:C129744: 
SCTID:609562003: 
UMLS:C1852093: