Search Ontology:
Human Disease

familial hyperinsulinemic hypoglycemia 5

Term ID
DOID:0070220
Synonyms
  • HHF5
  • hyperinsulinemic hypoglycemia due to INSR deficiency
  • hyperinsulinemic hypoglycemia due to insulin receptor deficiency
  • hyperinsulinism due to INSR deficiency
Definition
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/15161766
References
Ontology
Human Disease   ( DOID:0070220 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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