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maturity-onset diabetes of the young type 11

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.
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.
Disease Ontology Description A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.
Mondo Term and Equivalent IDs
MONDO:0013242:  maturity-onset diabetes of the young type 11
SCTID:609578001: 
UMLS:C3150618: