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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:0070449 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. (DO)
Synonyms:exact_synonym: MTDPS18
 primary_id: OMIM:618811
 alt_id: DOID:9006116


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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31028354 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        mitochondrial metabolism disease 812
          mitochondrial DNA depletion syndrome 41
            mitochondrial DNA depletion syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                mitochondrial DNA depletion syndrome 18 1
paths to the root