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Ontology Browser

Term:
progressive myoclonus epilepsy (DOID:891)
Annotations: Rat: (70) Mouse: (79) Human: (89) Chinchilla: (63) Bonobo: (72) Dog: (69) Squirrel: (63) Pig: (69)
Parent Terms Term With Siblings Child Terms
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Congenital Deafness and Familial Myoclonic Epilepsy 
Dravet syndrome  
early myoclonic encephalopathy +   
familial adult myoclonic epilepsy +   
familial encephalopathy with neuroserpin inclusion bodies  
Feigenbaum Bergeron Richardson Syndrome 
Hydroxylysinuria 
juvenile myoclonic epilepsy +   
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonic Epilepsy, Familial Infantile  
Myoclonic Epilepsy, Hartung Type 
Myoclonic-Atonic Epilepsy  
Photoparoxysmal Response 3 
progressive myoclonus epilepsy +   
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. (DO)
reflex epilepsy +   
Spastic Paraplegia with Myoclonic Epilepsy 

Synonyms
Exact Synonyms: Biotin Responsive Encephalopathy ;   Biotin-Responsive Encephalopathies ;   Familial Progressive Myoclonic Epilepsy ;   May White syndrome ;   NOD ;   PME ;   atypical inclusion body disease ;   atypical inclusion-body diseases ;   progressive myoclonic epilepsies ;   progressive myoclonic epilepsy ;   progressive myoclonus epilepsies
Narrow Synonyms: neuronal ceroid-lipofuscinosis, dominant/recessive ;   neuronal ceroid-lipofuscinosis, recessive ;   progressive myoclonic epilepsy, X-linked
Primary IDs: MESH:D020191
Alternate IDs: OMIM:310370
Xrefs: GARD:7140 ;   NCI:C7636 ;   OMIM:PS254800
Definition Sources: http://pn.bmj.com/content/15/3/164.long "DO"

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