ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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Accession:DOID:0060331 term browser browse the term
Definition:A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the TMEM70 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: MC5DN2;   neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
 primary_id: MESH:C567528
 alt_id: OMIM:614052;   RDO:0015586
 xref: ORDO:1194
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mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    Nutritional and Metabolic Diseases 4266
      disease of metabolism 4266
        mitochondrial metabolism disease 330
          mitochondrial complex V (ATP synthase) deficiency 5
            mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 78
                      mitochondrial encephalomyopathy 43
                        mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.