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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 6
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Accession:DOID:0080125 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT;   MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome;   MPV17-associated hepatocerebral MDS;   MTDPS6;   NNH;   Navajo Familial Neurogenic Arthropathy;   Navajo neurohepatopathy;   mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
 narrow_synonym: NAVAJO NEUROPATHY;   NN
 primary_id: MESH:C538344
 alt_id: OMIM:256810
 xref: GARD:3972;   ORDO:255229


show annotations for term's descendants           Sort by:
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ClinVar PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6819
        liver disease 2957
          mitochondrial DNA depletion syndrome 6 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            mitochondrial metabolism disease 812
              mitochondrial DNA depletion syndrome 41
                mitochondrial DNA depletion syndrome 6 3
paths to the root