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ONTOLOGY REPORT - ANNOTATIONS


Term:MERRF Syndrome
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Accession:DOID:310 term browser browse the term
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)
Synonyms:exact_synonym: Fukuhara Disease;   Fukuhara Syndrome;   MERRF;   Merff Syndrome;   Myoclonic Epilepsy Associated with Ragged Red Fibers;   Myoclonic Epilepsy and Ragged Red Fibers;   Myoclonic Epilepsy with Ragged Red Fibers;   Myoclonic epilepsy - ragged red fibers;   Myoclonus epilepsy AND ragged red fibers;   Myoclonus with Epilepsy with Ragged Red Fibers;   Myoclonus with epilepsy and with Ragged Red Fibers;   Myoencephalopathy Ragged Red Fiber Disease
 primary_id: MESH:D017243;   RDO:0001532
 alt_id: OMIM:545000
 xref: NCI:C84889
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MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      MERRF Syndrome 3
        MERRF/MELAS Overlap Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        MERRF Syndrome 3
                          MERRF/MELAS Overlap Syndrome 0
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