Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Leprechaunism
Synonyms	Donohue syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_172
ageOfDeath	Before age 5
ageOfOnset	Neonatal/infancy
altLabel	Donohue syndrome
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leprechaunism%5Btw%5D+OR+%28hyperinsulin*%5Btw%5D+AND+%28Receptor%2CInsulin/deficiency+OR+%28Insulin+receptor%5Ball%5D+AND+deficiency%5Btw%5D%29%29%29
id_MIM	246200
id_OMS	E34.8
id_Orpha	508
id_SNOMEDCT	111307005
inheritance	Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_172
prefLabel	Leprechaunism
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/OMIM_246200	CCO	LOOM
http://www.orpha.net/ORDO/Orphanet_508	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_508	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_508	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_508	ORDO	LOOM
rgo:23761	GAMUTS	LOOM
http://identifiers.org/omim/246200	REXO	LOOM
http://identifiers.org/omim/246200	GEXO	LOOM
http://identifiers.org/omim/246200	RETO	LOOM
http://purl.bioontology.org/ontology/RCD/C1zy3	RCD	LOOM
http://purl.obolibrary.org/obo/DERMO_0000655	DERMO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081903	MEDDRA	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15001	DERMLEX	LOOM
http://purl.bioontology.org/ontology/RCTV2/C1zy300	RCTV2	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265344	OCHV	LOOM
http://purl.obolibrary.org/obo/OGMD_0000058	OGMD	LOOM