Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

Lafora Disease
Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lafora_Disease
DEFINITION

A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.
label

Lafora Disease
prefixIRI

Thesaurus:Lafora_Disease
prefLabel

Lafora Disease
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder
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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://www.limics.org/hrdo/rdfns#pat_id_117 HRDO 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