Biomedical Informatics Research Network Project Lexicon

Last uploaded: March 24, 2008

Id	http://bioontology.org/projects/ontologies/birnlex#birnlex_12722 http://bioontology.org/projects/ontologies/birnlex#birnlex_12722
Preferred Name	Progressive Myoclonic Epilepsy
Synonyms
Type	http://www.w3.org/2002/07/owl#Class

definition	A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH).
preferred_label	Progressive Myoclonic Epilepsy
label	Progressive Myoclonic Epilepsy
prefLabel	Progressive Myoclonic Epilepsy
external_id_urls	http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D020191
synonyms
abbrev
retired	false
prefixIRI	birnlex_12722
external_ids	meshUID:D020191
subClassOf	http://bioontology.org/projects/ontologies/birnlex#birnlex_12719
class_or_indiv	true
type	http://www.w3.org/2002/07/owl#Class
mod_date	2007-10-08

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