Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_294 http://www.limics.org/hrdo/rdfns#pat_id_294
Preferred Name	Unverricht-Lundborg disease
Synonyms	ULD Progressive myoclonic epilepsy type 1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ULD Progressive myoclonic epilepsy type 1
prefLabel	Unverricht-Lundborg disease
id_MIM	254800 310370 612437
prevalence	1-9 / 1 000 000
inheritance	Autosomal recessive
id_UMLS	C0751785
id_OMS	G40.3
prefixIRI	hrdo:pat_id_294
id_Orpha	308
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8
id_SNOMEDCT	230423006
patType	malformation syndrome
id_MedDRA	10054895
id_MeSH	D020194
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=unverricht+lundborg+syndrome+OR+epilepsy%2C+myoclonic%5Bmh%5D+%28unverricht+lundborg%5Btw%5D+OR+baltic%5Btw%5D%29
ageOfOnset	Childhood

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