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hyperinsulinism due to HNF1A deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Mondo Term and Equivalent IDs
MONDO:0017935: hyperinsulinism due to HNF1A 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:324575
SCTID:721234004
UMLS:C4303475
MONDO:0017935
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