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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:9001681
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mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        mitochondrial DNA depletion syndrome 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.