Experimental Factor Ontology - hyperinsulinemic hypoglycemia, familial, 1 - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: September 16, 2024

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Preferred Name	hyperinsulinemic hypoglycemia, familial, 1
Synonyms	Nesidioblastosis of pancreas hypoglycemia, hyperinsulinemic, of infancy hyperinsulinism, familial, with pancreatic Nesidioblastosis persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia HHF1 hyperinsulinemic hypoglycemia due to SUR1 deficiency ABCC8 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, type 1 hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8 hyperinsulinemic hypoglycemia, familial, 1
Definitions	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.
ID	http://purl.obolibrary.org/obo/MONDO_0009734
database_cross_reference	SCTID:360339005 UMLS:C2931832 OMIM:256450 DOID:0070219 MEDGEN:419505
definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.
exactMatch	http://identifiers.org/snomedct/360339005 http://linkedlifedata.com/resource/umls/id/C2931832 http://purl.obolibrary.org/obo/DOID_0070219 https://omim.org/entry/256450 http://identifiers.org/medgen/419505
has_exact_synonym	hyperinsulinemic hypoglycemia due to SUR1 deficiency ABCC8 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, type 1 hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8 hyperinsulinemic hypoglycemia, familial, 1
has_related_synonym	Nesidioblastosis of pancreas hypoglycemia, hyperinsulinemic, of infancy hyperinsulinism, familial, with pancreatic Nesidioblastosis persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia HHF1
id	MONDO:0009734
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	hyperinsulinemic hypoglycemia, familial, 1
notation	MONDO:0009734
preferred label	hyperinsulinemic hypoglycemia, familial, 1
prefLabel	hyperinsulinemic hypoglycemia, familial, 1
subClassOf	http://www.ebi.ac.uk/efo/EFO_0007318

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0009734	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0009734	DOVES	SAME_URI
	http://purl.bioontology.org/ontology/OMIM/256450	OMIM	LOOM
	http://purl.obolibrary.org/obo/MONDO_0009734	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0009734	DOVES	LOOM