Familial Hyperinsulinemic Hypoglycemia 4
Disease ID: disease_node_16859
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:2819, MIM:609975, ORDO:71212 |
|---|---|
| Subclassof | DOID_0050737, DOID_13317 |
| Data Source | DOID |
| Synonyms | HHF4, hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, hyperinsulinism due to SCHAD deficiency, hyperinsulinism due to glutamodehydrogenase deficiency, hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency |
| Doid Label | familial hyperinsulinemic hypoglycemia 4 |
| Doid Description | 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. |
| Has Phenotype | HP_0011015 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16859 |
| Doid Id | DOID_0070215 |
| Label | Familial Hyperinsulinemic Hypoglycemia 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Nesidioblastosis(ID:disease_node_11328) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)