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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: ICD10CM:G71.3;   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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          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 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        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.