loading...| Preferred Name | MERRF syndrome | |
| Synonyms |
myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged red fibers myoencephalopathy ragged-red fiber disease myoclonic epilepsy with ragged red fibers MERRF Fukuhara syndrome MERRF syndrome myoclonic epilepsy - ragged red fibers myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibers myoclonus epilepsy and ragged red fibers myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) |
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| Definitions |
A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010790 |
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| altLabel |
myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged red fibers myoencephalopathy ragged-red fiber disease myoclonic epilepsy with ragged red fibers MERRF Fukuhara syndrome MERRF syndrome myoclonic epilepsy - ragged red fibers myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibers myoclonus epilepsy and ragged red fibers myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) |
|
| definition |
A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. |
|
| has_exact_synonym |
Fukuhara syndrome MERRF syndrome myoclonic epilepsy - ragged red fibers myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibers myoclonus epilepsy and ragged red fibers myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) |
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| has_related_synonym |
myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged red fibers myoencephalopathy ragged-red fiber disease myoclonic epilepsy with ragged red fibers MERRF |
|
| label |
MERRF syndrome |
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| prefixIRI |
MONDO:0010790 |
|
| prefLabel |
MERRF syndrome |
|
| textual definition |
A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020074 http://purl.obolibrary.org/obo/MONDO_0004675 http://purl.obolibrary.org/obo/MONDO_0000414 http://purl.obolibrary.org/obo/MONDO_0016022 http://purl.obolibrary.org/obo/MONDO_0016333 http://purl.obolibrary.org/obo/MONDO_0002320 |