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. [ NCIT:P378 ]
Term information
- MedDRA:10069825 (Orphanet:551)
- MESH:D017243 (Orphanet:551)
- ICD9:277.87 (i2s)
- DOID:310 (MONDO:equivalentTo)
- SCTID:68448003 (MONDO:equivalentTo)
- OMIM:545000 (Orphanet:551)
- Orphanet:551 (OMIM:545000)
- ICD10:G71.3 (Orphanet:551)
- GARD:0007144 (Orphanet-shared)
- UMLS:C0162672 (Orphanet:551)
- ICD10:E88.42 (MONDO:equivalentTo)
- NCIT:C84889 (MONDO:equivalentTo)
ordo_disease
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.
http://identifiers.org/omim/545000
http://purl.obolibrary.org/obo/NCIT_C84889
http://linkedlifedata.com/resource/umls/id/C0162672
http://purl.obolibrary.org/obo/DOID_310
http://identifiers.org/snomedct/68448003
http://identifiers.org/mesh/D017243
http://www.orpha.net/ORDO/Orphanet_551
http://identifiers.org/meddra/10069825
myoclonus epilepsy and ragged red fibers
MERRF syndrome
Fukuhara syndrome
myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)
myoclonus with epilepsy and with ragged Red fibers
myoclonus epilepsy associated with ragged-red fibres
myoclonic epilepsy - ragged red fibers
myoclonic epilepsy with ragged red fibers
myoencephalopathy ragged-red fiber disease
MERRF
myoclonic epilepsy associated with ragged-RED fibers
myoclonic epilepsy associated with ragged red fibers
Term relations
- early myoclonic encephalopathy
- neurometabolic disease
- mitochondrial disease with eye involvement
- syndromic disease
- mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
- mitochondrial disease with hypertrophic cardiomyopathy
- mitochondrial disease with peripheral neuropathy
- mitochondrial disease with epilepsy
- mitochondrial encephalomyopathy
- childhood electroclinical syndrome