loading...| Preferred Name |
MERRF syndrome |
|
| Synonyms |
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) 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 |
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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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010790 |
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| 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 |
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| 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. |
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| 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 |