| Metadata | |
|---|---|
| ID | DOID:0070215 |
| Name | familial hyperinsulinemic hypoglycemia 4 |
| Definition | A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/11489939 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HHF4 [EXACT] hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [EXACT] hyperinsulinism due to glutamodehydrogenase deficiency [EXACT] hyperinsulinism due to SCHAD deficiency [EXACT] hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal recessive inheritance |