Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Congenital isolated hyperinsulinism
Synonyms	Persistent hyperinsulinemic hypoglycemia of infancy PHHI CHI
ID	http://www.limics.org/hrdo/rdfns#pat_id_1025
ageOfDeath	Normal
ageOfOnset	Childhood
altLabel	Persistent hyperinsulinemic hypoglycemia of infancy PHHI CHI
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperinsulinism%5Bmajr%5D+AND+%28pancreatic+diseases%5Bmajr%5D+OR+hypoglycemia%5Bmh%5D%29+AND+%28nesidioblastosis%5Btw%5D
id_MeSH	D044903
id_OMS	E16.1
id_Orpha	657
id_SNOMEDCT	360337007 360339005
id_UMLS	C1257959
inheritance	Autosomal dominant Autosomal recessive
patType	group of phenomes
prefixIRI	hrdo:pat_id_1025
prefLabel	Congenital isolated hyperinsulinism
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13120 http://www.limics.org/hrdo/rdfns#pat_id_12371 http://www.limics.org/hrdo/rdfns#pat_id_20382

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019010	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019010	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019010	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019010	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_657	ORDO	LOOM