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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 19
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Accession:DOID:0070450 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: MTDPS19
 primary_id: OMIM:618972
 alt_id: DOID:9006004


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mitochondrial DNA depletion syndrome 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 OMIM
ClinVar		 PMID:25741868 PMID:29211846 NCBI chr10:105,765,598...105,775,159
Ensembl chr10:105,765,372...105,773,556 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          mitochondrial DNA depletion syndrome 41
            mitochondrial DNA depletion syndrome 19 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                mitochondrial DNA depletion syndrome 19 1
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