loading...| Preferred Name |
MERRF syndrome |
|
| 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 |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_310 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| 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 |
|
| fromILAE |
true |
|
| 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 |
|
| has_obo_namespace |
disease_ontology |
|
| 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. |
|
| id |
DOID:310 |
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| imported from | ||
| in subset | ||
| label |
MERRF syndrome |
|
| notation |
DOID:310 |
|
| prefLabel |
MERRF syndrome |
|
| subClassOf |