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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003561
http://purl.bioontology.org/ontology/NDFRT/N0000003561
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|---|---|
| Preferred Name | MERRF Syndrome [Disease/Finding] |
| Synonyms |
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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
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|---|---|
| prefLabel |
MERRF Syndrome [Disease/Finding]
|
| notation |
N0000003561
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| 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)
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| MESH UI |
M0026164
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
MERRF Syndrome
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| NDFRT kind |
DISEASE_KIND
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| type | |
| SNOMED CID |
57254004
68448003
230426003
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| tui |
T047
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| NUI |
N0000003561
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| cui |
C0162672
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| MESH DUI |
D017243
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