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About: familial hyperinsulinemic hypoglycemia 7     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 7
described by
id
  • DOID:0070214
database_cross_reference
  • GARD:9932
  • MESH:C538376
  • OMIM:610021
  • ORDO:165991
  • UMLS_CUI:C1864902
has_exact_synonym
  • hyperinsulinism due to monocarboxylate transporter 1 deficiency (en)
  • EIHI (en)
  • HHF7 (en)
  • exercise-induced hyperinsulinemic hypoglycemia (en)
  • exercise-induced hyperinsulinism (en)
  • hyperinsulinism due to SLC16A1 deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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