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hyperinsulinism due to HNF4A deficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).
Mondo Term and Equivalent IDs
MONDO:0016988: hyperinsulinism due to HNF4A deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:263455
SCTID:717048002
UMLS:C4274078
MONDO:0016988
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