Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Progressive myoclonic epilepsy
Synonyms	PME
ID	http://www.limics.org/hrdo/rdfns#pat_id_13278
altLabel	PME EMP
id_MeSH	D020191
id_Orpha	98261
id_SNOMEDCT	267581004
id_UMLS	C0751778
patType	group of phenomes
prefixIRI	hrdo:pat_id_13278
prefLabel	Epilepsie myoclonique progressive Epilepsia, mioclonia progressiva Progressive myoclonic epilepsy Myoklonusepilepsie, progressive Epilessia mioclonica progressiva Epilepsia mioclónica progresiva
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13276 http://www.limics.org/hrdo/rdfns#pat_id_13277

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_891	CLO	LOOM
http://www.orpha.net/ORDO/Orphanet_98261	EFO	LOOM
http://purl.bioontology.org/ontology/SNMI/DA-31590	SNMI	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_891	NATPRO	LOOM
http://purl.obolibrary.org/obo/NBO_0000689	NBO	LOOM
http://purl.bioontology.org/ontology/RCD/XE15I	RCD	LOOM
http://www.limics.fr/ontologies/ontolurgences#MyoclonieEpileptiqueProgressiveFamiliale	ONTOLURGENCES	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12722	NIFDYS	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12722	NIFSTD	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/267581004	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_98261	ORDO	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12722	BIRNLEX	LOOM
http://purl.bioontology.org/ontology/RCTV2/F132100	RCTV2	LOOM