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RGD uses the Human Disease Ontology (DO, 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: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
For additional species annotation, visit the Alliance of Genome Resources.

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mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by OMIM:615084
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          mitochondrial DNA depletion syndrome 29
            mitochondrial DNA depletion syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    mitochondrial myopathy 89
                      mitochondrial DNA depletion syndrome 11 1
paths to the root