| Metadata | |
|---|---|
| ID | DOID:0070214 |
| Name | familial hyperinsulinemic hypoglycemia 7 |
| Definition | A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. https://www.ncbi.nlm.nih.gov/pubmed/17701893 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715830008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
EIHI [EXACT] exercise-induced hyperinsulinemic hypoglycemia [EXACT] exercise-induced hyperinsulinism [EXACT] HHF7 [EXACT] hyperinsulinism due to monocarboxylate transporter 1 deficiency [EXACT] hyperinsulinism due to SLC16A1 deficiency [EXACT] |
| Parent Relationships |