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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 16
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Accession:DOID:0070446 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: MTDPS16;   mitochondrial DNA depletion syndrome 16 (hepatic type)
 primary_id: MIM:618528
 alt_id: DOID:9008345


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mitochondrial DNA depletion syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) ClinVar PMID:25741868 PMID:28492532 NCBI chr10:92,184,002...92,205,001
Ensembl chr10:92,187,479...92,205,003 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          mitochondrial DNA depletion syndrome 56
            mitochondrial DNA depletion syndrome 16 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                mitochondrial DNA depletion syndrome 16 2
paths to the root