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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 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 6:43,895,255...43,909,347
Ensembl chr 6:45,176,773...45,191,505 		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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873 		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 3:155,670,432...155,721,404
Ensembl chr 3:163,721,479...163,769,454 		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 chr16:14,599,074...14,643,641
Ensembl chr16:23,718,891...23,763,948 		JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO 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 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		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 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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 Ensembl chr16:29,227,852...29,233,513 JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chr 3:155,670,432...155,721,404
Ensembl chr 3:163,721,479...163,769,454 		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 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297 		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 chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240 		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 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		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 chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037 		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 chr 6:30,659,346...30,671,678
Ensembl chr 6:31,527,372...31,539,814 		JBrowse link
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name 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 6:71,342,291...71,346,033
Ensembl chr 6:74,629,688...74,633,754 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 More... NCBI chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567 		JBrowse link
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 More... NCBI chr 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25741868 More... NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873 		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 chr16:14,599,074...14,643,641
Ensembl chr16:23,718,891...23,763,948 		JBrowse link
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:11080643 PMID:16199547 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr2A:55,792,412...55,848,242
Ensembl chr2A:56,931,365...56,986,326 		JBrowse link
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13A1 coagulation factor XIII A chain ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22499341 PMID:22833457 More... NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		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 chr 6:4,887,010...5,096,384
Ensembl chr 6:5,127,918...5,279,038 		JBrowse link
G NRN1 neuritin 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr 6:5,832,603...5,841,975
Ensembl chr 6:6,014,000...6,022,870 		JBrowse link
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 OMIM
ClinVar		 PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		JBrowse link
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency OMIM
ClinVar		 PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 More... NCBI chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240 		JBrowse link
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 ClinVar
OMIM		 PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 More... NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241 		JBrowse link
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFXN4 sideroflexin 4 ISO ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome OMIM
ClinVar		 PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 NCBI chr10:115,700,886...115,736,359
Ensembl chr10:119,135,711...119,160,711 		JBrowse link
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name 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 chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 OMIM
ClinVar		 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr 6:4,887,010...5,096,384
Ensembl chr 6:5,127,918...5,279,038 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172 		JBrowse link
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 More... NCBI chr 6:30,659,346...30,671,678
Ensembl chr 6:31,527,372...31,539,814 		JBrowse link
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 PMID:34508595 NCBI chr 1:125,832,693...125,852,918
Ensembl chr 1:129,480,824...129,501,639 		JBrowse link
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 OMIM
ClinVar		 PMID:23596069 PMID:25741868 PMID:28492532 PMID:34954817 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP3 GTP binding protein 3, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 OMIM
ClinVar		 PMID:16199547 PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 NCBI chr19:16,822,786...16,830,787
Ensembl chr19:17,797,131...17,804,481 		JBrowse link
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 More... NCBI chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037 		JBrowse link
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:25741868 PMID:25754315 PMID:28492532 NCBI chr2B:84,954,833...84,957,871
Ensembl chr2B:202,847,478...202,849,259 		JBrowse link
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT5 tRNA methyltransferase 5 ISO 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
ClinVar		 PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 More... NCBI chr14:41,578,241...41,588,494
Ensembl chr14:59,836,906...59,845,936 		JBrowse link
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 More... NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000 		JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404 		JBrowse link
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 OMIM
ClinVar		 PMID:25741868 PMID:26522469 PMID:28492532 NCBI chr 3:66,112,241...66,271,151
Ensembl chr 3:67,483,669...67,642,988 		JBrowse link
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TXN2 thioredoxin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 OMIM
ClinVar		 PMID:25741868 PMID:26626369 PMID:28492532 NCBI chr22:17,384,017...17,398,965
Ensembl chr22:35,220,721...35,235,877 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name 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 chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		JBrowse link
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 OMIM
ClinVar		 PMID:25741868 PMID:27132592 NCBI chr 3:98,671,176...98,675,743 JBrowse link
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582 		JBrowse link
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name 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 chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		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 chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		JBrowse link
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name 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 chr17:5,481,114...5,487,482
Ensembl chr17:5,473,239...5,479,735 		JBrowse link
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name 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 chr17:69,185,045...69,208,766
Ensembl chr17:74,737,164...74,762,039 		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 chr17:69,208,788...69,213,461
Ensembl chr17:74,762,057...74,766,891 		JBrowse link
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name 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 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187 		JBrowse link
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name 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 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name 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 chr19:4,695,760...4,698,236
Ensembl chr19:5,631,304...5,633,783 		JBrowse link
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:30358850 NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292 		JBrowse link
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name 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 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297 		JBrowse link
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 OMIM
ClinVar		 PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 More... Ensembl chr16:29,227,852...29,233,513 JBrowse link
combined oxidative phosphorylation deficiency 40 term browser
Symbol Object Name 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 chr 6:104,444,646...104,481,732
Ensembl chr 6:108,315,270...108,353,505 		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 chr 6:104,368,222...104,444,583
Ensembl chr 6:108,258,745...108,315,214 		JBrowse link
combined oxidative phosphorylation deficiency 41 term browser
Symbol Object Name 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 4:144,005,127...144,095,552
Ensembl chr 4:155,657,600...155,747,679 		JBrowse link
combined oxidative phosphorylation deficiency 42 term browser
Symbol Object Name 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 chr12:118,028,042...118,045,403
Ensembl chr12:121,402,532...121,419,628 		JBrowse link
combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name 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 chr17:962,571...968,320
Ensembl chr17:886,776...892,041 		JBrowse link
combined oxidative phosphorylation deficiency 44 term browser
Symbol Object Name 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 chr2B:93,999,837...94,030,683
Ensembl chr2B:212,129,283...212,154,329 		JBrowse link
combined oxidative phosphorylation deficiency 45 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:23603806 NCBI chr17:76,162,710...76,166,862
Ensembl chr17:81,863,518...81,867,734 		JBrowse link
combined oxidative phosphorylation deficiency 46 term browser
Symbol Object Name 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 chr17:51,917,574...51,929,577
Ensembl chr17:56,775,846...56,787,058 		JBrowse link
combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name 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 chr 3:91,128,431...91,203,337
Ensembl chr 3:97,807,732...97,878,472 		JBrowse link
combined oxidative phosphorylation deficiency 49 term browser
Symbol Object Name 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 chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		JBrowse link
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 More... NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		JBrowse link
combined oxidative phosphorylation deficiency 50 term browser
Symbol Object Name 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 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594 		JBrowse link
combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name 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 chr2A:86,157,741...86,192,227
Ensembl chr2A:87,705,389...87,740,432 		JBrowse link
combined oxidative phosphorylation deficiency 52 term browser
Symbol Object Name 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 chr20:31,994,509...32,026,776 JBrowse link
combined oxidative phosphorylation deficiency 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13H2orf69 chromosome 13 C2orf69 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 OMIM
ClinVar		 PMID:25741868 PMID:33945503 PMID:34038740 NCBI chr2B:87,160,309...87,177,161
Ensembl chr2B:205,319,094...205,333,361 		JBrowse link
combined oxidative phosphorylation deficiency 54 term browser
Symbol Object Name 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 chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
combined oxidative phosphorylation deficiency 55 term browser
Symbol Object Name 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 chr19:504,823...521,281
Ensembl chr19:584,219...599,783 		JBrowse link
combined oxidative phosphorylation deficiency 56 term browser
Symbol Object Name 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 3:11,655,271...11,780,497
Ensembl chr 3:12,068,067...12,124,535 		JBrowse link
combined oxidative phosphorylation deficiency 57 term browser
Symbol Object Name 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 chr20:6,003,915...6,037,853
Ensembl chr20:5,786,880...5,820,285 		JBrowse link
Combined Oxidative Phosphorylation Deficiency 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TEFM transcription elongation factor, mitochondrial ISO OMIM NCBI chr17:25,933,934...25,941,220
Ensembl chr17:25,423,956...25,432,198 		JBrowse link
Combined Oxidative Phosphorylation Deficiency 59 term browser
Symbol Object Name 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 chr21:12,027,383...12,052,370
Ensembl chr21:25,388,661...25,410,490 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name 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 chr12:120,755,760...120,831,536
Ensembl chr12:124,991,210...125,065,203 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar		 PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		JBrowse link
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 6:43,895,255...43,909,347
Ensembl chr 6:45,176,773...45,191,505 		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 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		JBrowse link
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 OMIM
ClinVar		 PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr 3:128,544,224...128,609,045
Ensembl chr 3:135,866,397...135,907,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        mitochondrial metabolism disease 810
          combined oxidative phosphorylation deficiency 71
            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 0
            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 2
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            mitochondrial metabolism disease 810
              combined oxidative phosphorylation deficiency 71
                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 0
                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 2
                combined oxidative phosphorylation deficiency 9 1
paths to the root