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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:combined oxidative phosphorylation deficiency
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Accession:DOID:0060286 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)
Synonyms:xref: GARD:12893;   OMIM:PS609060


show annotations for term's descendants           Sort by:
combined oxidative phosphorylation deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:21119709 PMID:25741868 PMID:28216230 PMID:28492532 PMID:31683770 NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471 		JBrowse link
G Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361 		JBrowse link
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISS OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 MouseDO NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:28492532 PMID:29075935 NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		JBrowse link
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 ISO ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ClinVar PMID:28492532 NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 More... NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231 		JBrowse link
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 More... NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 ClinVar PMID:12826609 PMID:23265383 PMID:26619011 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25741868 More... NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ClinVar PMID:25741868 NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361 		JBrowse link
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11080643 PMID:16199547 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696 		JBrowse link
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22499341 PMID:22833457 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:24161539 PMID:25741868 PMID:28492532 PMID:32007496 NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750 		JBrowse link
G Nrn1 neuritin 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr17:28,129,969...28,138,898
Ensembl chr17:28,129,977...28,138,896 		JBrowse link
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15		 OMIM
CTD
ClinVar		 PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl44 mitochondrial ribosomal protein L44 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency		 OMIM
CTD
ClinVar		 PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 More... NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812 		JBrowse link
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elac2 elaC ribonuclease Z 2 susceptibility ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 More... NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614 		JBrowse link
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfxn4 sideroflexin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 NCBI chr 1:259,976,480...259,998,778
Ensembl chr 1:259,976,481...259,998,754 		JBrowse link
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19		 OMIM
CTD
ClinVar		 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2		 OMIM
CTD
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656 		JBrowse link
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 More... NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		JBrowse link
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 PMID:34508595 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22		 OMIM
CTD
ClinVar		 PMID:23596069 PMID:25741868 PMID:28492532 PMID:34954817 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp3 GTP binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857 		JBrowse link
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 More... NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521 		JBrowse link
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25754315 PMID:28492532 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820 		JBrowse link
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt5 tRNA methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY		 OMIM
CTD
ClinVar		 PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 More... NCBI chr 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555 		JBrowse link
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 More... NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192 		JBrowse link
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a26 solute carrier family 25 member 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26522469 PMID:28492532 NCBI chr 4:127,036,704...127,131,026
Ensembl chr 4:127,036,742...127,131,020 		JBrowse link
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txn2 thioredoxin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26626369 PMID:28492532 NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS | ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27132592 NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568 		JBrowse link
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727 		JBrowse link
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 ClinVar PMID:25741868 PMID:28492532 PMID:28777931 PMID:35326425 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 OMIM
ClinVar		 PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 PMID:32445240 More... NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 OMIM
ClinVar		 PMID:28492532 PMID:28942965 PMID:32652806 PMID:34003581 NCBI chr10:55,699,954...55,704,605
Ensembl chr10:55,699,954...55,704,649 		JBrowse link
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,825,427...100,843,422
Ensembl chr10:100,825,426...100,844,462 		JBrowse link
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 OMIM
ClinVar		 PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 NCBI chr10:100,843,691...100,846,838
Ensembl chr10:100,843,356...100,847,129 		JBrowse link
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency OMIM
ClinVar		 PMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 More... NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764 		JBrowse link
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29576219 NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy OMIM
ClinVar		 PMID:27485409 PMID:27623147 PMID:29618761 NCBI chr 9:1,439,841...1,441,782
Ensembl chr 9:1,439,058...1,442,076 		JBrowse link
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 ClinVar
OMIM		 PMID:30358850 NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915 		JBrowse link
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22700954 PMID:25741868 PMID:26016410 More... NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197 		JBrowse link
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tufm Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4		 OMIM
CTD
ClinVar		 PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 More... NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
combined oxidative phosphorylation deficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		JBrowse link
combined oxidative phosphorylation deficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 OMIM
ClinVar		 PMID:25741868 PMID:30283131 NCBI chr 2:170,930,547...171,017,133
Ensembl chr 2:170,930,542...171,016,695 		JBrowse link
combined oxidative phosphorylation deficiency 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 OMIM
ClinVar		 PMID:25741868 PMID:30283131 NCBI chr12:41,270,096...41,278,067
Ensembl chr12:41,270,087...41,277,995 		JBrowse link
combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm22 translocase of inner mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 OMIM
ClinVar		 PMID:22638997 PMID:25741868 PMID:30452684 NCBI chr10:61,253,459...61,261,217
Ensembl chr10:61,253,450...61,261,755 		JBrowse link
combined oxidative phosphorylation deficiency 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 | ClinVar Annotator: match by term: FASTKD2-related condition OMIM
ClinVar		 PMID:18771761 PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 More... NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174 		JBrowse link
combined oxidative phosphorylation deficiency 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl12 mitochondrial ribosomal protein L12 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 ClinVar
OMIM		 PMID:23603806 NCBI chr10:105,758,410...105,762,913
Ensembl chr10:105,758,410...105,762,913 		JBrowse link
combined oxidative phosphorylation deficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 OMIM
ClinVar		 PMID:25741868 PMID:26741492 PMID:28492532 NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264 		JBrowse link
combined oxidative phosphorylation deficiency 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps28 mitochondrial ribosomal protein S28 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 ClinVar
OMIM		 PMID:30566640 NCBI chr 2:92,820,676...92,951,302
Ensembl chr 2:92,820,606...92,951,284 		JBrowse link
combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 OMIM
ClinVar		 PMID:27356879 PMID:28492532 PMID:32671698 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543 		JBrowse link
combined oxidative phosphorylation deficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 OMIM
ClinVar		 PMID:29361167 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 More... NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
combined oxidative phosphorylation deficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 OMIM
ClinVar		 PMID:31039582 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057 		JBrowse link
combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 OMIM
ClinVar		 PMID:25741868 PMID:30607703 PMID:36450274 NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538 		JBrowse link
combined oxidative phosphorylation deficiency 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfs1 NFS1 cysteine desulfurase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 OMIM
ClinVar		 PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 NCBI chr 3:144,637,309...144,659,660
Ensembl chr 3:144,637,309...144,659,666 		JBrowse link
combined oxidative phosphorylation deficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9h2orf69 similar to human chromosome 2 open reading frame 69 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 OMIM
ClinVar		 PMID:25741868 PMID:33945503 PMID:34038740 NCBI chr 9:58,949,821...58,958,456
Ensembl chr 9:58,949,846...58,958,561 		JBrowse link
combined oxidative phosphorylation deficiency 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 OMIM
ClinVar		 PMID:25741868 PMID:34715011 PMID:37558808 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
combined oxidative phosphorylation deficiency 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:33602924 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
combined oxidative phosphorylation deficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 OMIM
ClinVar		 PMID:35321494 NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694 		JBrowse link
combined oxidative phosphorylation deficiency 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 OMIM
ClinVar		 PMID:35147173 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
Combined Oxidative Phosphorylation Deficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tefm transcription elongation factor, mitochondrial ISO OMIM NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486 		JBrowse link
Combined Oxidative Phosphorylation Deficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59 OMIM
ClinVar		 PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7		 OMIM
CTD
ClinVar		 PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy ClinVar PMID:26008905 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl3 mitochondrial ribosomal protein L3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9		 OMIM
CTD
ClinVar		 PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544 		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
          combined oxidative phosphorylation deficiency 73
            Combined Oxidative Phosphorylation Deficiency 58 1
            Combined Oxidative Phosphorylation Deficiency 59 1
            combined oxidative phosphorylation deficiency 1 6
            combined oxidative phosphorylation deficiency 10 2
            combined oxidative phosphorylation deficiency 11 2
            combined oxidative phosphorylation deficiency 12 2
            combined oxidative phosphorylation deficiency 13 1
            combined oxidative phosphorylation deficiency 14 4
            combined oxidative phosphorylation deficiency 15 1
            combined oxidative phosphorylation deficiency 16 1
            combined oxidative phosphorylation deficiency 17 1
            combined oxidative phosphorylation deficiency 18 1
            combined oxidative phosphorylation deficiency 19 2
            combined oxidative phosphorylation deficiency 2 1
            combined oxidative phosphorylation deficiency 20 1
            combined oxidative phosphorylation deficiency 21 1
            combined oxidative phosphorylation deficiency 22 1
            combined oxidative phosphorylation deficiency 23 1
            combined oxidative phosphorylation deficiency 24 1
            combined oxidative phosphorylation deficiency 25 1
            combined oxidative phosphorylation deficiency 26 1
            combined oxidative phosphorylation deficiency 27 2
            combined oxidative phosphorylation deficiency 28 1
            combined oxidative phosphorylation deficiency 29 1
            combined oxidative phosphorylation deficiency 3 2
            combined oxidative phosphorylation deficiency 30 1
            combined oxidative phosphorylation deficiency 31 1
            combined oxidative phosphorylation deficiency 32 2
            combined oxidative phosphorylation deficiency 33 1
            combined oxidative phosphorylation deficiency 34 2
            combined oxidative phosphorylation deficiency 35 1
            combined oxidative phosphorylation deficiency 36 1
            combined oxidative phosphorylation deficiency 37 1
            combined oxidative phosphorylation deficiency 38 1
            combined oxidative phosphorylation deficiency 39 1
            combined oxidative phosphorylation deficiency 4 1
            combined oxidative phosphorylation deficiency 40 2
            combined oxidative phosphorylation deficiency 41 1
            combined oxidative phosphorylation deficiency 42 1
            combined oxidative phosphorylation deficiency 43 1
            combined oxidative phosphorylation deficiency 44 1
            combined oxidative phosphorylation deficiency 45 1
            combined oxidative phosphorylation deficiency 46 1
            combined oxidative phosphorylation deficiency 47 1
            combined oxidative phosphorylation deficiency 48 1
            combined oxidative phosphorylation deficiency 49 1
            combined oxidative phosphorylation deficiency 5 1
            combined oxidative phosphorylation deficiency 50 1
            combined oxidative phosphorylation deficiency 51 1
            combined oxidative phosphorylation deficiency 52 1
            combined oxidative phosphorylation deficiency 53 1
            combined oxidative phosphorylation deficiency 54 1
            combined oxidative phosphorylation deficiency 55 1
            combined oxidative phosphorylation deficiency 56 1
            combined oxidative phosphorylation deficiency 57 1
            combined oxidative phosphorylation deficiency 6 2
            combined oxidative phosphorylation deficiency 7 2
            combined oxidative phosphorylation deficiency 8 3
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            mitochondrial metabolism disease 811
              combined oxidative phosphorylation deficiency 73
                Combined Oxidative Phosphorylation Deficiency 58 1
                Combined Oxidative Phosphorylation Deficiency 59 1
                combined oxidative phosphorylation deficiency 1 6
                combined oxidative phosphorylation deficiency 10 2
                combined oxidative phosphorylation deficiency 11 2
                combined oxidative phosphorylation deficiency 12 2
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 4
                combined oxidative phosphorylation deficiency 15 1
                combined oxidative phosphorylation deficiency 16 1
                combined oxidative phosphorylation deficiency 17 1
                combined oxidative phosphorylation deficiency 18 1
                combined oxidative phosphorylation deficiency 19 2
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 20 1
                combined oxidative phosphorylation deficiency 21 1
                combined oxidative phosphorylation deficiency 22 1
                combined oxidative phosphorylation deficiency 23 1
                combined oxidative phosphorylation deficiency 24 1
                combined oxidative phosphorylation deficiency 25 1
                combined oxidative phosphorylation deficiency 26 1
                combined oxidative phosphorylation deficiency 27 2
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 2
                combined oxidative phosphorylation deficiency 30 1
                combined oxidative phosphorylation deficiency 31 1
                combined oxidative phosphorylation deficiency 32 2
                combined oxidative phosphorylation deficiency 33 1
                combined oxidative phosphorylation deficiency 34 2
                combined oxidative phosphorylation deficiency 35 1
                combined oxidative phosphorylation deficiency 36 1
                combined oxidative phosphorylation deficiency 37 1
                combined oxidative phosphorylation deficiency 38 1
                combined oxidative phosphorylation deficiency 39 1
                combined oxidative phosphorylation deficiency 4 1
                combined oxidative phosphorylation deficiency 40 2
                combined oxidative phosphorylation deficiency 41 1
                combined oxidative phosphorylation deficiency 42 1
                combined oxidative phosphorylation deficiency 43 1
                combined oxidative phosphorylation deficiency 44 1
                combined oxidative phosphorylation deficiency 45 1
                combined oxidative phosphorylation deficiency 46 1
                combined oxidative phosphorylation deficiency 47 1
                combined oxidative phosphorylation deficiency 48 1
                combined oxidative phosphorylation deficiency 49 1
                combined oxidative phosphorylation deficiency 5 1
                combined oxidative phosphorylation deficiency 50 1
                combined oxidative phosphorylation deficiency 51 1
                combined oxidative phosphorylation deficiency 52 1
                combined oxidative phosphorylation deficiency 53 1
                combined oxidative phosphorylation deficiency 54 1
                combined oxidative phosphorylation deficiency 55 1
                combined oxidative phosphorylation deficiency 56 1
                combined oxidative phosphorylation deficiency 57 1
                combined oxidative phosphorylation deficiency 6 2
                combined oxidative phosphorylation deficiency 7 2
                combined oxidative phosphorylation deficiency 8 3
                combined oxidative phosphorylation deficiency 9 1
paths to the root