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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: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

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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 Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6696
      disease of metabolism 6696
        mitochondrial metabolism disease 769
          mitochondrial DNA depletion syndrome 41
            mitochondrial DNA depletion syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    mitochondrial myopathy 110
                      mitochondrial encephalomyopathy 69
                        mitochondrial DNA depletion syndrome 14 1
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