Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 6
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        liver disease 2314
          mitochondrial DNA depletion syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            mitochondrial metabolism disease 307
              mitochondrial DNA depletion syndrome 25
                mitochondrial DNA depletion syndrome 6 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.