Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	Progressive myoclonic epilepsy
Synonyms	PME
ID	http://www.orpha.net/ORDO/Orphanet_98261
alternative_term	PME Progressive myoclonus epilepsy
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261
hasDbXref	MeSH:D020191 ICD-11:8A61.41 UMLS:C0751778
label	Progressive myoclonic epilepsy
notation	ORPHA:98261 Clinical group
prefixIRI	ORDO:Orphanet_98261
prefLabel	Progressive myoclonic epilepsy
subClassOf	http://www.orpha.net/ORDO/Orphanet_306756 http://www.orpha.net/ORDO/Orphanet_98259 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_98260

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_98261	EFO	SAME_URI
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://purl.obolibrary.org/obo/DOID_891	CLO	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://bioontology.org/projects/ontologies/birnlex#birnlex_12722	BIRNLEX	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13278	HRDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/F132100	RCTV2	LOOM