loading...| Preferred Name |
MERRF Syndrome [Disease/Finding] |
|
| Synonyms |
Myoencephalopathy Ragged-Red Fiber Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003561 |
|
| altLabel |
Myoencephalopathy Ragged-Red Fiber Disease MERRF Syndrome Myoclonic Epilepsy with Ragged-Red Fibers Myoclonic Epilepsy with Ragged Red Fibers Fukuhara Syndrome Fukuhara Disease Myoclonic Epilepsy and Ragged Red Fibers Myoclonus with Epilepsy with Ragged Red Fibers MERRF Myoclonic Epilepsy Associated with Ragged-Red Fibers |
|
| cui |
C0162672 |
|
| MESH DEFINITION |
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) |
|
| MESH DUI |
D017243 |
|
| MeSH name |
MERRF Syndrome |
|
| MESH UI |
M0026164 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003561 |
|
| NUI |
N0000003561 |
|
| prefLabel |
MERRF Syndrome [Disease/Finding] |
|
| SNOMED CID |
57254004 68448003 230426003 |
|
| tui |
T047 |
|
| subClassOf |