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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;   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: 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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514, PMID:16816025, PMID:17400793, PMID:18332249 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 16023
    syndrome 7003
      MERRF Syndrome 3
        MERRF/MELAS Overlap Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    mitochondrial myopathy 91
                      mitochondrial encephalomyopathy 49
                        MERRF Syndrome 3
                          MERRF/MELAS Overlap Syndrome 0
paths to the root

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