Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Juvenile neuronal ceroid lipofuscinosis
Synonyms	JNCL Spielmeyer-Vogt disease Batten disease Juvenile NCL
ID	http://www.limics.org/hrdo/rdfns#pat_id_11290
ageOfDeath	Young adult
ageOfOnset	Childhood
altLabel	JNCL Spielmeyer-Vogt disease Batten disease Juvenile NCL
id_MedDRA	10052073
id_Medline	neant
id_MIM	204200 204500 256730 600143 609055 610127
id_OMS	E75.4
id_Orpha	79264
id_SNOMEDCT	61663001
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_11290
prefLabel	Juvenile neuronal ceroid lipofuscinosis
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019262	MONDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201243	NANDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/61663001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/F1012	RCD	LOOM
http://purl.jp/bio/4/id/200906075122454483	IOBC	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052073	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-77140	SNMI	LOOM
http://nanbyodata.jp/ontology/NANDO_1200154	NANDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019262	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019262	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019262	DOVES	LOOM