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About: familial hyperinsulinemic hypoglycemia 4     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 4
described by
id
  • DOID:0070215
database_cross_reference
  • GARD:2819
  • OMIM:609975
  • ORDO:71212
has_exact_synonym
  • hyperinsulinism due to glutamodehydrogenase deficiency (en)
  • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (en)
  • HHF4 (en)
  • hyperinsulinism due to SCHAD deficiency (en)
  • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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