| Metadata | |
|---|---|
| ID | DOID:0070216 |
| Name | familial hyperinsulinemic hypoglycemia 3 |
| Definition | A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. https://www.ncbi.nlm.nih.gov/pubmed/11916951, https://www.ncbi.nlm.nih.gov/pubmed/9435328 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HHF3 [EXACT] hyperinsulinemic hypoglycemia due to glucokinase deficiency [EXACT] hyperinsulinism due to glucokinase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal dominant inheritance |