Search Ontology:
Human Disease

familial hyperinsulinemic hypoglycemia 7

Term ID
DOID:0070214
Synonyms
  • EIHI
  • exercise-induced hyperinsulinemic hypoglycemia
  • exercise-induced hyperinsulinism
  • HHF7
  • hyperinsulinism due to monocarboxylate transporter 1 deficiency
  • hyperinsulinism due to SLC16A1 deficiency
Definition
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. https://www.ncbi.nlm.nih.gov/pubmed/17701893
References
  • GARD:9932
  • MESH:C538376
  • MIM:610021
  • NCI:C131839
  • ORDO:165991
  • SNOMEDCT_US_2023_03_01:715830008
  • UMLS_CUI:C1864902
Ontology
Human Disease   ( DOID:0070214 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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