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About: familial hyperinsulinemic hypoglycemia 6     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 6
described by
id
  • DOID:0070217
database_cross_reference
  • GARD:9931
  • OMIM:606762
  • ORDO:35878
has_exact_synonym
  • HHF6 (en)
  • HI/HA syndrome (en)
  • hyperinsulinism-hyperammonemia syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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