Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Dent disease type 1
Synonyms	Nephrolithiasis type 1
ID	http://www.limics.org/hrdo/rdfns#pat_id_12453
ageOfDeath	Adult
ageOfOnset	Childhood
altLabel	Nephrolithiasis type 1
id_Medline	neant
id_MeSH	C538212
id_MIM	300009 300554 308990 310468
id_OMS	N25.8
id_Orpha	93622
id_UMLS	C1848336
inheritance	X-linked recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_12453
prefLabel	Dent disease type 1
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/717789008	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010225	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010225	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010225	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010225	KTAO	LOOM
http://www.orpha.net/ORDO/Orphanet_93622	ORDO	LOOM