| Metadata | |
|---|---|
| ID | DOID:0070219 |
| Name | familial hyperinsulinemic hypoglycemia 1 |
| Definition | A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/8545179, https://www.ncbi.nlm.nih.gov/pubmed/7005072, https://www.ncbi.nlm.nih.gov/pubmed/7716548 |
| Xrefs | |
| Synonyms |
HHF1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |