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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:Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
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Accession:DOID:9009081 term browser browse the term
Definition:An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)
Synonyms:narrow_synonym: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
 primary_id: OMIM:251900


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Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM
ClinVar		 PMID:24281368 PMID:25741868 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Anatomical Pathological Conditions 2657
        Atrophy 354
          optic atrophy 189
            Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    mitochondrial myopathy 123
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
paths to the root