loading...| Preferred Name | MERRF syndrome | |
| Synonyms |
myoencephalopathy ragged-red fiber disease myoclonic epilepsy associated with ragged-RED fibres myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy with ragged red fibers myoclonic epilepsy associated with ragged red fibres myoclonic epilepsy with ragged red fibres myoencephalopathy ragged-red fibre disease myoclonic epilepsy associated with ragged red fibers myoclonus epilepsy and ragged red fibers myoclonic epilepsy - ragged red fibers MERRF syndrome Fukuhara syndrome myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome) myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibres myoclonic epilepsy - ragged red fibres myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) myoclonus with epilepsy and with ragged Red fibers myoclonus epilepsy associated with ragged-red fibers myoclonus epilepsy and ragged red fibres MERRF |
|
| 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 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C84889 NANDO:2200526 UMLS:C0162672 MESH:D017243 Orphanet:551 SCTID:68448003 ICD10CM:E88.42 MedDRA:10069825 ICD9:277.87 MEDGEN:56486 OMIM:545000 NANDO:1200177 DOID:310 GARD:7144 NORD:1441 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_310 http://identifiers.org/snomedct/68448003 http://identifiers.org/medgen/56486 http://identifiers.org/mesh/D017243 http://purl.obolibrary.org/obo/NCIT_C84889 http://purl.bioontology.org/ontology/ICD10CM/E88.42 |
|
| has_exact_synonym |
myoclonus epilepsy and ragged red fibers myoclonic epilepsy - ragged red fibers MERRF syndrome Fukuhara syndrome myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome) myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibres myoclonic epilepsy - ragged red fibres myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) myoclonus with epilepsy and with ragged Red fibers myoclonus epilepsy associated with ragged-red fibers myoclonus epilepsy and ragged red fibres MERRF |
|
| has_related_synonym |
myoencephalopathy ragged-red fiber disease myoclonic epilepsy associated with ragged-RED fibres myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy with ragged red fibers myoclonic epilepsy associated with ragged red fibres myoclonic epilepsy with ragged red fibres myoencephalopathy ragged-red fibre disease myoclonic epilepsy associated with ragged red fibers |
|
| IAO_0000233 | ||
| id |
MONDO:0010790 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
MERRF syndrome |
|
| notation |
MONDO:0010790 |
|
| preferred label |
MERRF syndrome |
|
| prefLabel |
MERRF syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004675 http://purl.obolibrary.org/obo/MONDO_0100545 http://purl.obolibrary.org/obo/MONDO_0002320 |
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| excluded_subClassOf |