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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   Myoclonus with Epilepsy with Ragged Red Fibers;   Myoencephalopathy Ragged Red Fiber Disease;   myoclonic epilepsy - ragged red fibers;   myoclonus epilepsy and ragged red fibers;   myoclonus with epilepsy and with ragged red fibers
 primary_id: MESH:D017243
 alt_id: OMIM:545000
 xref: ICD10CM:E88.42;   NCI:C84889
For additional species annotation, visit the Alliance of Genome Resources.


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MERRF Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      MERRF Syndrome 3
        MERRF/MELAS Overlap Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    mitochondrial myopathy 123
                      mitochondrial encephalomyopathy 78
                        MERRF Syndrome 3
                          MERRF/MELAS Overlap Syndrome 0
paths to the root