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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 20
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Accession:DOID:0070451 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: MTDPS20;   mitochondrial DNA depletion syndrome 20 (MNGIE type);   mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related
 primary_id: OMIM:619780
 alt_id: DOID:9001068


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mitochondrial DNA depletion syndrome 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig3 DNA ligase 3 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) OMIM
ClinVar		 PMID:25741868 PMID:33855352 PMID:34165507 NCBI chr10:67,717,808...67,741,141
Ensembl chr10:67,717,812...67,798,414 		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 20 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              mitochondrial DNA depletion syndrome 41
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
                  mitochondrial DNA depletion syndrome 20 1
paths to the root