loading...| Preferred Name |
MERRF Syndrome |
|
| Synonyms |
Syndrome, MERRF |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017243 |
|
| altLabel |
Syndrome, MERRF Myoencephalopathy Ragged-Red Fiber Disease Syndrome, Fukuhara Myoencephalopathy Ragged Red Fiber Disease Myoclonic Epilepsy with Ragged-Red Fibers Myoclonic Epilepsy with Ragged Red Fibers Myoclonic Epilepsy Associated 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 |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0162672 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19930101 |
|
| HN |
1993 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1993 |
|
| MDA |
19920522 |
|
| MMR |
20170224 |
|
| MN |
C18.452.660.560.620.530 C10.228.140.490.493.063.650.700 C10.228.140.163.100.545 C18.452.132.100.545 C05.651.460.620.530 C18.452.648.189.545 C10.668.491.500.500.550 C10.228.140.490.375.130.650.700 C16.320.565.189.545 |
|
| notation |
D017243 |
|
| prefLabel |
MERRF Syndrome |
|
| TERMUI |
T369456 T051405 T751062 T051404 T781492 T842097 T751061 T844175 T369457 T369455 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1993) NLM (2012) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020739 |