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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:16582910 PMID:16909392 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25861990 PMID:26467025 PMID:26741492 PMID:27536553 PMID:28207748 PMID:28209105 PMID:28492532 PMID:29282788 PMID:30298599 PMID:30833296 PMID:31319225 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      endocrine system disease 0
        liver disease 2413
          mitochondrial DNA depletion syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            mitochondrial metabolism disease 345
              mitochondrial DNA depletion syndrome 29
                mitochondrial DNA depletion syndrome 6 1
paths to the root