EpilepsyOntology

Last uploaded: November 8, 2021

Id	http://purl.obolibrary.org/obo/DOID_310 http://purl.obolibrary.org/obo/DOID_310
Preferred Name	MERRF syndrome
Definitions	OMIM mapping confirmed by DO. [SN].
Synonyms	Myoclonic epilepsy - ragged red fibers Fukuhara syndrome Myoclonus epilepsy AND ragged red fibers Myoclonic epilepsy with ragged red fibres Myoclonus with epilepsy and with Ragged Red Fibers
Type	http://www.w3.org/2002/07/owl#Class

label	MERRF syndrome
comment	OMIM mapping confirmed by DO. [SN].
prefLabel	MERRF syndrome
database_cross_reference	SNOMEDCT_US_2018_03_01:68448003 UMLS_CUI:C0162672 MESH:D017243 ICD10CM:E88.42 SNOMEDCT_US_2018_03_01:57254004 OMIM:545000 MTHICD9_2006:277.87 NCI:C84889 See more See less
notation	DOID:310
in subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
id	DOID:310
has_obo_namespace	disease_ontology
subClassOf	http://purl.obolibrary.org/obo/MONDO_0044970
imported from	http://purl.obolibrary.org/obo/doid.owl
hasDefinition	MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types.
fromILAE	true
type	http://www.w3.org/2002/07/owl#Class
has exact synonym	Myoclonic epilepsy - ragged red fibers Fukuhara syndrome Myoclonus epilepsy AND ragged red fibers Myoclonic epilepsy with ragged red fibres Myoclonus with epilepsy and with Ragged Red Fibers

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