OBO ID: DOID:0070217
Term Name: familial hyperinsulinemic hypoglycemia 6 Search Ontology:
Synonyms:
  • HHF6
  • HI/HA syndrome
  • hyperinsulinism-hyperammonemia syndrome
Definition: A hyperinsulinemic hypoglycemia characterized by autosomal dominant 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. (2)
References:
Ontology: Human Disease   ( DOID:0070217 )
Relationships
is a type of:
OTHER familial hyperinsulinemic hypoglycemia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLUD1 Hyperinsulinism-hyperammonemia syndrome 606762
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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