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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:exact_synonym: MEOAL
 primary_id: OMIM:251900
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP OMIM NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,310,045...10,316,015
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18966
    sensory system disease 5773
      eye disease 3045
        optic nerve disease 223
          optic atrophy 122
            Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
Path 2
Term Annotations click to browse term
  disease 18966
    disease of anatomical entity 17449
      nervous system disease 13510
        peripheral nervous system disease 2631
          neuropathy 2443
            neuromuscular disease 1938
              muscular disease 1271
                muscle tissue disease 868
                  myopathy 717
                    mitochondrial myopathy 118
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
paths to the root