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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 11
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Accession:DOID:0080129 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (DO)
Synonyms:exact_synonym: MTDPS11;   progressive external ophthalmoplegia-myopathy-emaciation syndrome
 primary_id: OMIM:615084
 alt_id: RDO:9000571
 xref: ORDO:352447
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mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15984
    Nutritional and Metabolic Diseases 4630
      disease of metabolism 4630
        mitochondrial metabolism disease 323
          mitochondrial DNA depletion syndrome 26
            mitochondrial DNA depletion syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                muscle tissue disease 759
                  myopathy 614
                    mitochondrial myopathy 86
                      mitochondrial DNA depletion syndrome 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.