About: familial hyperinsulinemic hypoglycemia 5

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

Attributes	Values
type	Class
subClassOf	hyperinsulinemic hypoglycemia nodeID://b50939937
label	familial hyperinsulinemic hypoglycemia 5
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070220
database_cross_reference	OMIM:609968 ORDO:263458
has_exact_synonym	hyperinsulinemic hypoglycemia due to INSR deficiency (en) HHF5 (en) hyperinsulinemic hypoglycemia due to insulin receptor deficiency (en) hyperinsulinism due to INSR deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939938

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