OBO ID: DOID:0070215
Term Name: familial hyperinsulinemic hypoglycemia 4 Search Ontology:
Synonyms:
  • HHF4
  • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
  • hyperinsulinism due to glutamodehydrogenase deficiency
  • hyperinsulinism due to SCHAD deficiency
  • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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
References:
Ontology: Human Disease   ( DOID:0070215 )
OTHER familial hyperinsulinemic hypoglycemia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HADH Hyperinsulinemic hypoglycemia, familial, 4 609975
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None