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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-Associated Hepatocerebral MDS;   MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT;   MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome;   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;   RDO:0004310;   RDO:0009872
 xref: GARD:3972;   ORDO:255229
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:256810
ClinVar Annotator: match by term: Navajo neurohepatopathy
ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect
OMIM
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      endocrine system disease 5841
        liver disease 2480
          mitochondrial DNA depletion syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          inherited metabolic disorder 2650
            mitochondrial metabolism disease 395
              mitochondrial DNA depletion syndrome 30
                mitochondrial DNA depletion syndrome 6 1
paths to the root