Familial Hyperinsulinemic Hypoglycemia 6
Disease ID: disease_node_16857
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| Dbxref | GARD:9931, MIM:606762, ORDO:35878 |
|---|---|
| Subclassof | DOID_0050736, DOID_13317 |
| Data Source | DOID |
| Synonyms | HHF6, HI/HA syndrome, hyperinsulinism-hyperammonemia syndrome |
| Disease Has Feature | DOID_9993 |
| Doid Label | familial hyperinsulinemic hypoglycemia 6 |
| Doid Description | A hyperinsulinemic hypoglycemia characterized by autosomal domit inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. |
| Has Phenotype | HP_0011015 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16857 |
| Doid Id | DOID_0070217 |
| Label | Familial Hyperinsulinemic Hypoglycemia 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Nesidioblastosis(ID:disease_node_11328) (Disease)