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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 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;   mitochondrial complex V (ATP synthase) deficiency, TMEM70 type;   neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency;   nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
 primary_id: MESH:C567528
 alt_id: OMIM:614052
 xref: GARD:12965;   ORDO:1194


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mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:21147908 PMID:28492532 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2		 OMIM
CTD
ClinVar		 PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 More... NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        mitochondrial metabolism disease 811
          mitochondrial complex V (ATP synthase) deficiency 21
            mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  myopathy 1003
                    mitochondrial myopathy 123
                      mitochondrial encephalomyopathy 78
                        mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
paths to the root