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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:MERRF syndrome
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Accession:EFO:MONDO:0010790 term browser browse the term
Definition:A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.
Synonyms:exact_synonym: Fukuhara syndrome;   myoclonic epilepsy - ragged red fibers;   myoclonic epilepsy - ragged red fibres;   myoclonus epilepsy and ragged red fibers;   myoclonus epilepsy and ragged red fibres;   myoclonus epilepsy associated with ragged-red fibers;   myoclonus epilepsy associated with ragged-red fibres;   myoclonus with epilepsy and with ragged Red fibers;   myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome);   myoclonus with epilepsy and with ragged Red fibres;   myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)
 related_synonym: MERRF;   myoclonic epilepsy associated with ragged red fibers;   myoclonic epilepsy associated with ragged red fibres;   myoclonic epilepsy with ragged red fibers;   myoclonic epilepsy with ragged red fibres;   myoencephalopathy ragged-red fiber disease;   myoencephalopathy ragged-red fibre disease
 alt_id: MONDO:0010790
 xref: DOID:310;   GARD:7144;   ICD10CM:E88.42;   ICD9:277.87;   MEDGEN:56486;   MESH:D017243;   MIM:545000;   MedDRA:10069825;   NANDO:1200177;   NANDO:2200526;   NCI:C84889;   NORD:1441;   ORDO:551;   SCTID:68448003;   UMLS:C0162672


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  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          syndromic disease 1514
            MERRF syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          musculoskeletal system disease 11595
            muscle tissue disorder 760
              skeletal muscle disorder 226
                myopathy 207
                  congenital myopathy 0
                    congenital structural myopathy 0
                      inborn mitochondrial myopathy 0
                        mitochondrial encephalomyopathy 0
                          MERRF syndrome 0
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