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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 14
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Accession:DOID:0080336 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: MTDPS14;   mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type);   mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
 primary_id: OMIM:616896
For additional species annotation, visit the Alliance of Genome Resources.

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mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) ClinVar
PMID:25741868 PMID:26561570 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          mitochondrial DNA depletion syndrome 29
            mitochondrial DNA depletion syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    mitochondrial myopathy 88
                      mitochondrial encephalomyopathy 48
                        mitochondrial DNA depletion syndrome 14 1
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