ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 6
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Accession:DOID:0080125 term browser browse the term
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
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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

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        liver disease 2270
          mitochondrial DNA depletion syndrome 6 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                mitochondrial DNA depletion syndrome 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.