Cell Culture Ontology - hyperinsulinemic hypoglycemia, familial, 2 - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

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Preferred Name	hyperinsulinemic hypoglycemia, familial, 2
Synonyms	hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, neonatal hyperinsulinism, familial persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, persistent hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia nesidioblastosis HHF2 hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia, familial, type 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
database_cross_reference	DOID:0070218 UMLS:C2931833 OMIM:601820 MEDGEN:419173 GARD:9927
definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
has_exact_synonym	hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
has_related_synonym	hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, neonatal hyperinsulinism, familial persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, persistent hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia nesidioblastosis HHF2
id	MONDO:0011153
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	hyperinsulinemic hypoglycemia, familial, 2
notation	MONDO:0011153
preferred label	hyperinsulinemic hypoglycemia, familial, 2
prefLabel	hyperinsulinemic hypoglycemia, familial, 2
see also	https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C2931833 http://identifiers.org/medgen/419173 http://purl.obolibrary.org/obo/DOID_0070218 https://omim.org/entry/601820
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019010

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