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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 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            MERRF syndrome 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            muscle tissue disorder 0
              skeletal muscle disorder 0
                myopathy 0
                  congenital myopathy 0
                    congenital structural myopathy 0
                      inborn mitochondrial myopathy 0
                        mitochondrial encephalomyopathy 0
                          MERRF syndrome 0
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