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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 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:25741868 PMID:25986071 PMID:28492532 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 Fastkd2 FAST kinase domains 2 ISS MouseDO NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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 Nfs1 NFS1 cysteine desulfurase ISS MouseDO NCBI chr 3:144,637,309...144,659,660
Ensembl chr 3:144,637,309...144,659,666
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 Prorp protein only RNase P catalytic subunit ISS MouseDO NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:25741868 PMID:25986071 PMID:28492532 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G RGD1306941 similar to CG31122-PA ISS MouseDO NCBI chr 9:58,949,821...58,958,456
Ensembl chr 9:58,949,846...58,958,561
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 OMIM
ClinVar
PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 PMID:21119709 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:25326637 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...151,412,069
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 ClinVar PMID:19863551 PMID:20525856 PMID:20716751 PMID:23299917 PMID:23861362 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
JBrowse link
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 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
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:25741868 PMID:26780086 PMID:26893310 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 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:23084291 PMID:24088041 PMID:25326635 PMID:25457163 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 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 14 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22499341 PMID:22833457 PMID:24161539 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 chr17:28,746,442...28,861,849
Ensembl chr17:28,746,469...28,861,750
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 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 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 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 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 OMIM
ClinVar
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:11522646 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 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: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 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 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 OMIM
ClinVar
PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr17:28,746,442...28,861,849
Ensembl chr17:28,746,469...28,861,750
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 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 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 OMIM
ClinVar
PMID:12345 PMID:16199547 PMID:24827421 PMID:25058219 PMID:25741868 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 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 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 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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 OMIM
ClinVar
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 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 chr 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
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 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 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor 7 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:77,671,021...77,782,593
Ensembl chr16:77,671,023...77,782,697
JBrowse link
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 chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
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 4:127,036,704...127,131,022
Ensembl chr 4:127,036,742...127,131,020
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 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 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 Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar PMID:25326637 PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 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 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 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 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:24033266 PMID:25741868 PMID:27799064 PMID:28492532 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 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 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 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 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 ClinVar
OMIM
PMID:28942965 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 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 chr10:100,825,426...100,844,462
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 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:26381753 PMID:28185376 PMID:28492532 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 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 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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 chr 9:1,439,058...1,442,092
Ensembl chr 9:1,439,058...1,442,076
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 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 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:22700954 PMID:25741868 PMID:26016410 PMID:28492532 PMID:29075935 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 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:25741868 PMID:26741492 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 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:25741868 PMID:26741492 PMID:28492532 PMID:29440775 PMID:30283131 NCBI chr20:47,357,211...47,382,135
Ensembl chr20:47,357,216...47,382,135
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 2:170,930,536...171,017,062
Ensembl chr 2:170,930,542...171,016,695
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 ClinVar
OMIM
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 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 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 OMIM
ClinVar
PMID:18771761 PMID:25741868 PMID:28492532 PMID:28499982 PMID:31944455 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 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 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 ClinVar
OMIM
PMID:26741492 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 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 2:92,855,557...92,858,805
Ensembl chr 2:92,820,606...92,951,284
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: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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia OMIM
ClinVar
PMID:17873122 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 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 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 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 ClinVar
OMIM
PMID:30607703 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 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 ClinVar
OMIM
PMID:24498631 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1306941 similar to CG31122-PA 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 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
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 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: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 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:22019070 PMID:25583628 PMID:25741868 PMID:26173962 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:22019070 PMID:25583628 PMID:25741868 PMID:26173962 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Cdk2ap1 cyclin-dependent kinase 2 associated protein 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,249,783...32,258,483
Ensembl chr12:32,249,747...32,258,479
JBrowse link
G Ddx55 DEAD-box helicase 55 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,034,462...32,050,218
Ensembl chr12:32,034,462...32,050,219
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
JBrowse link
G Kmt5a lysine methyltransferase 5A ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,139,353...32,167,777
Ensembl chr12:32,139,178...32,162,711
JBrowse link
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 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
G Rilpl1 Rab interacting lysosomal protein-like 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,071,870...32,109,687
Ensembl chr12:32,071,693...32,109,938
JBrowse link
G Rilpl2 Rab interacting lysosomal protein-like 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,125,908...32,137,426
Ensembl chr12:32,125,886...32,137,418
JBrowse link
G Sbno1 strawberry notch homolog 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
JBrowse link
G Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,112,032...32,119,829
Ensembl chr12:32,110,993...32,122,660
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tmed2 transmembrane p24 trafficking protein 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,052,542...32,061,596
Ensembl chr12:32,052,543...32,071,903
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 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 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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 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 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 84
            Combined Oxidative Phosphorylation Deficiency 44 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 1 6
            combined oxidative phosphorylation deficiency 10 1
            combined oxidative phosphorylation deficiency 11 2
            combined oxidative phosphorylation deficiency 12 2
            combined oxidative phosphorylation deficiency 13 1
            combined oxidative phosphorylation deficiency 14 2
            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 8
            combined oxidative phosphorylation deficiency 28 1
            combined oxidative phosphorylation deficiency 29 1
            combined oxidative phosphorylation deficiency 3 3
            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 1
            combined oxidative phosphorylation deficiency 41 1
            combined oxidative phosphorylation deficiency 42 1
            combined oxidative phosphorylation deficiency 43 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 6 2
            combined oxidative phosphorylation deficiency 7 14
            combined oxidative phosphorylation deficiency 8 3
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            mitochondrial metabolism disease 442
              combined oxidative phosphorylation deficiency 84
                Combined Oxidative Phosphorylation Deficiency 44 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 1 6
                combined oxidative phosphorylation deficiency 10 1
                combined oxidative phosphorylation deficiency 11 2
                combined oxidative phosphorylation deficiency 12 2
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 2
                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 8
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 3
                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 1
                combined oxidative phosphorylation deficiency 41 1
                combined oxidative phosphorylation deficiency 42 1
                combined oxidative phosphorylation deficiency 43 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 6 2
                combined oxidative phosphorylation deficiency 7 14
                combined oxidative phosphorylation deficiency 8 3
                combined oxidative phosphorylation deficiency 9 1
paths to the root