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About: familial hyperinsulinemic hypoglycemia 3     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • familial hyperinsulinemic hypoglycemia 3
described by
id
  • DOID:0070216
database_cross_reference
  • GARD:2818
  • OMIM:602485
  • ORDO:79299
has_exact_synonym
  • HHF3 (en)
  • hyperinsulinism due to glucokinase deficiency (en)
  • hyperinsulinemic hypoglycemia due to glucokinase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
is topic of
is annotatedSource of
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