Digital medicine Outcomes Value Set (DOVeS) Ontology - hyperinsulinemic hypoglycemia, familial, 2 - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	hyperinsulinemic hypoglycemia, familial, 2
Synonyms	hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, congenital persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia hyperinsulinemic hypoglycemia, persistent nesidioblastosis hyperinsulinism, familial HHF2 hyperinsulinism, neonatal KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Definitions	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
ID	http://purl.obolibrary.org/obo/MONDO_0011153
altLabel	hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, congenital persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia hyperinsulinemic hypoglycemia, persistent nesidioblastosis hyperinsulinism, familial HHF2 hyperinsulinism, neonatal KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
has_exact_synonym	KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
has_related_synonym	hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, congenital persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia hyperinsulinemic hypoglycemia, persistent nesidioblastosis hyperinsulinism, familial HHF2 hyperinsulinism, neonatal
label	hyperinsulinemic hypoglycemia, familial, 2
prefixIRI	MONDO:0011153
prefLabel	hyperinsulinemic hypoglycemia, familial, 2
seeAlso	https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2
textual definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019010

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0011153	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0011153	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0011153	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0011153	CCONT	LOOM
	http://purl.obolibrary.org/obo/MONDO_0011153	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0011153	EFO	LOOM
	http://purl.bioontology.org/ontology/OMIM/601820	OMIM	LOOM