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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: MIM:612073


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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 Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO
ISS		 OMIM:612073
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6608
          amino acid metabolic disorder 1585
            mitochondrial DNA depletion syndrome 5 7
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        peripheral nervous system disease 4278
          neuropathy 4064
            neuromuscular disease 3203
              muscular disease 2223
                muscle tissue disease 1351
                  myopathy 1043
                    mitochondrial myopathy 99
                      mitochondrial encephalomyopathy 56
                        mitochondrial DNA depletion syndrome 5 7
paths to the root