Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Lafora disease
Synonyms

Progressive myoclonic epilepsy type 2
ID

http://www.limics.org/hrdo/rdfns#pat_id_117
ageOfOnset

Childhood
altLabel

Progressive myoclonic epilepsy type 2
id_MedDRA

10054030
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lafora+disease%5Bmh%5D+OR+Lafora+disease%5Bti%5D+OR+%28epilepsy%5Bti%5D+AND+progressive+myoclonic%5Bti%5D%29
id_MeSH

D020192
id_MIM

254780
id_OMS

G40.3
id_Orpha

501
id_SNOMEDCT

230425004
id_UMLS

C0751783
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_117
prefLabel

Lafora disease
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.480 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200955 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009697 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009697 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009697 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_501 ORDO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_Disease EPISEM LOOM
http://purl.obolibrary.org/obo/DOID_3534 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3534 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3534 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3534 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3534 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3534 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0020109 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84804 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48492 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.490.250.650.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X006X RCD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3534 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C84804 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.529 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0751783 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lafora_Disease CSEO LOOM
http://nanbyodata.jp/ontology/NANDO_2200881 NANDO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Lafora_disease EPISEM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230425004 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020192 RH-MESH LOOM
http://purl.jp/bio/4/id/200906075442173652 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038244 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D020192 MESH LOOM