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maturity-onset diabetes of the young type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-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:0010894:  maturity-onset diabetes of the young type 3
GARD:0010658: 
MESH:C563933: 
NCIT:C129742: 
SCTID:609570008: 
UMLS:C1838100: