| Metadata | |
|---|---|
| ID | DOID:0070220 |
| Name | familial hyperinsulinemic hypoglycemia 5 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HHF5 [EXACT] hyperinsulinemic hypoglycemia due to INSR deficiency [EXACT] hyperinsulinemic hypoglycemia due to insulin receptor deficiency [EXACT] hyperinsulinism due to INSR deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal dominant inheritance |