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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 5
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Accession:DOID:0080124 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: MTDPS5;   mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);   mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive;   mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related
 primary_id: MESH:C567624
 alt_id: OMIM:612073;   RDO:0009590;   RDO:0015650
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by OMIM:612073
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
OMIM
ClinVar
PMID:17287286 PMID:17301081 PMID:20843780 PMID:23759946 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
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Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          amino acid metabolic disorder 433
            mitochondrial DNA depletion syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    mitochondrial myopathy 91
                      mitochondrial encephalomyopathy 48
                        mitochondrial DNA depletion syndrome 5 1
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