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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 18
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Accession:DOID:9006116 term browser browse the term
Synonyms:exact_synonym: MTDPS18
 primary_id: OMIM:618811
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial DNA Depletion Syndrome 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 ClinVar
OMIM
PMID:29517768 NCBI chr 6:77,624,384...78,121,339
Ensembl chr 6:77,624,385...77,848,434
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          mitochondrial DNA depletion syndrome 27
            Mitochondrial DNA Depletion Syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            mitochondrial metabolism disease 333
              mitochondrial DNA depletion syndrome 27
                Mitochondrial DNA Depletion Syndrome 18 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.