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hyperinsulinism due to UCP2 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Mondo Term and Equivalent IDs
MONDO:0017183:  hyperinsulinism due to UCP2 deficiency
Orphanet:276556: 
SCTID:721834007: 
UMLS:C4303082: