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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial complex I deficiency
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Accession:DOID:0060536 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)
Synonyms:exact_synonym: NADH-coenzyme Q reductase deficiency;   NADH:Q(1) oxidoreductase deficiency;   deficiency of mitochondrial NADH dehydrogenase component of complex I;   isolated NADH-CoQ reductase deficiency;   isolated NADH-coenzyme Q reductase deficiency;   isolated NADH-ubiquinone reductase deficiency;   isolated mitochondrial respiratory chain complex I deficiency;   mitochondrial oxidative phosphorylation disorder
 narrow_synonym: NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT;   NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I
 primary_id: MESH:C537475
 alt_id: RDO:0009969
 xref: GARD:3908;   OMIM:PS252010;   ORDO:2609
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8554872
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 JBrowse link 1 161,184,302 161,202,339 RGD:8554872
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 130,129,362 130,165,887 RGD:13592920
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 33,986,165 34,008,050 RGD:8554872
G AP4S1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 14 31,025,106 31,096,450 RGD:8554872
G ARHGAP5 Rho GTPase activating protein 5 JBrowse link 14 32,072,588 32,159,728 RGD:8554872
G ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) JBrowse link 14 32,075,419 32,076,699 RGD:8554872
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) JBrowse link 5 33,986,986 34,124,528 RGD:8554872
G DTD2 D-aminoacyl-tRNA deacylase 2 JBrowse link 14 31,446,036 31,457,506 RGD:8554872
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 5 60,873,832 60,945,078 RGD:8554872
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8554872
G GAMT guanidinoacetate N-methyltransferase JBrowse link 19 1,397,026 1,401,542 RGD:8554872
G GPR33 G protein-coupled receptor 33 (gene/pseudogene) JBrowse link 14 31,482,875 31,488,039 RGD:8554872
G HEATR5A HEAT repeat containing 5A JBrowse link 14 31,291,788 31,420,550 RGD:8554872
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 JBrowse link 14 31,100,117 31,207,793 RGD:8554872
G LINC02313 long intergenic non-protein coding RNA 2313 JBrowse link 14 31,944,853 31,950,294 RGD:8554872
G MIR624 microRNA 624 JBrowse link 14 31,014,646 31,014,742 RGD:8554872
G MRPL36 mitochondrial ribosomal protein L36 JBrowse link 5 1,798,385 1,801,432 RGD:8554872
G MT-ND1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 3,307 4,262 RGD:8554872
G MT-ND2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 4,470 5,511 RGD:8554872
G MT-ND3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 10,059 10,404 RGD:8554872
G MT-ND4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,760 12,137 RGD:8554872
G MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) JBrowse link MT 3,230 3,304 RGD:8554872
G MT-TN mitochondrially encoded tRNA asparagine JBrowse link MT 5,657 5,729 RGD:8554872
G MTFMT mitochondrial methionyl-tRNA formyltransferase JBrowse link 15 65,001,512 65,029,639 RGD:8554872
G MTO1 mitochondrial tRNA translation optimization 1 JBrowse link 6 73,461,737 73,509,236 RGD:8554872
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 119,871,832 119,876,662 RGD:8554872
RGD:13592920
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 2 239,892,442 240,025,402 RGD:8554872
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 19 5,891,276 5,903,790 RGD:8554872
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 JBrowse link 19 19,516,225 19,528,198 RGD:8554872
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 5 140,645,285 140,647,785 RGD:8554872
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 22 42,085,526 42,090,772 RGD:8554872
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 12 4,649,114 4,694,317 RGD:8554872
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 15 41,387,353 41,402,501 RGD:8554872
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 60,945,205 61,153,026 RGD:8554872
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 3 49,020,475 49,023,495 RGD:8554872
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 6 96,889,315 96,897,891 RGD:8554872
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8554872
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8554872
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 2 201,071,784 201,085,750 RGD:8554872
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 JBrowse link 10 100,523,729 100,529,923 RGD:8554872
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 8 124,539,102 124,549,986 RGD:8554872
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,114,817 206,159,444 RGD:1556706
RGD:8554872
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,199,315 161,214,395 RGD:8554872
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,579,074 47,584,562 RGD:8554872
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 5 53,560,610 53,683,338 RGD:8554872
RGD:11554173
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 5 1,801,407 1,816,048 RGD:8554872
RGD:13592920
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 19 1,383,904 1,395,584 RGD:8554872
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 11 68,030,681 68,036,644 RGD:8554872
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 11 67,606,936 67,612,554 RGD:8554872
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 18 9,102,642 9,134,341 RGD:8554872
G NDUFV2-AS1 NDUFV2 antisense RNA 1 JBrowse link 18 9,121,265 9,136,720 RGD:8554872
G NUBPL nucleotide binding protein like JBrowse link 14 31,561,399 31,861,293 RGD:8554872
G RMND1 required for meiotic nuclear division 1 homolog JBrowse link 6 151,404,548 151,452,181 RGD:8554872
G SERAC1 serine active site containing 1 JBrowse link 6 158,109,515 158,168,270 RGD:8554872
G SLC25A10 solute carrier family 25 member 10 JBrowse link 17 81,712,236 81,721,016 RGD:8554872
G STRN3 striatin 3 JBrowse link 14 30,893,804 31,026,401 RGD:8554872
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 68,039,000 68,053,846 RGD:8554872
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 3 119,498,525 119,525,090 RGD:8554872
G TMCO6 transmembrane and coiled-coil domains 6 JBrowse link 5 140,596,529 140,647,411 RGD:8554872
G TMEM126B transmembrane protein 126B JBrowse link 11 85,628,573 85,636,540 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8554872
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 19 5,891,276 5,903,790 RGD:8554872
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 60,945,205 61,153,026 RGD:8554872
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 3 49,020,475 49,023,495 RGD:8554872
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8554872
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 2 201,071,784 201,085,750 RGD:8554872
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,114,817 206,159,444 RGD:8554872
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,199,315 161,214,395 RGD:8554872
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 5 53,560,610 53,683,338 RGD:8554872
RGD:7240710
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 11 67,606,936 67,612,554 RGD:8554872
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 18 9,102,642 9,134,341 RGD:8554872
G NDUFV2-AS1 NDUFV2 antisense RNA 1 JBrowse link 18 9,121,265 9,136,720 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 5 60,873,832 60,945,078 RGD:8554872
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 60,945,205 61,153,026 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 15 41,387,353 41,402,501 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 119,871,832 119,876,662 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 5 140,645,285 140,647,785 RGD:8554872
RGD:7240710
G TMCO6 transmembrane and coiled-coil domains 6 JBrowse link 5 140,596,529 140,647,411 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 19 5,891,276 5,903,790 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 6 96,889,315 96,897,891 RGD:7240710
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 8 94,895,768 95,118,496 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 3 49,020,475 49,023,495 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 11 68,030,681 68,036,644 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8554872
RGD:7240710
G BARD1 BRCA1 associated RING domain 1 JBrowse link 2 214,725,645 214,809,683 RGD:8554872
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 3 128,909,873 129,032,431 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTD2 D-aminoacyl-tRNA deacylase 2 JBrowse link 14 31,446,036 31,457,506 RGD:8554872
G GPR33 G protein-coupled receptor 33 (gene/pseudogene) JBrowse link 14 31,482,875 31,488,039 RGD:8554872
G HEATR5A HEAT repeat containing 5A JBrowse link 14 31,291,788 31,420,550 RGD:8554872
G NUBPL nucleotide binding protein like JBrowse link 14 31,561,399 31,861,293 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 2 239,892,442 240,025,402 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 12 94,971,328 95,003,713 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTSS1 MTSS I-BAR domain containing 1 JBrowse link 8 124,550,770 124,728,507 RGD:8554872
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 8 124,539,102 124,549,986 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 2 201,071,784 201,085,750 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 12 4,649,114 4,694,317 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTFMT mitochondrial methionyl-tRNA formyltransferase JBrowse link 15 65,001,512 65,029,639 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 JBrowse link 19 19,516,225 19,528,198 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM126B transmembrane protein 126B JBrowse link 11 85,628,573 85,636,540 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 19 1,383,904 1,395,584 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 3 119,498,525 119,525,090 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 JBrowse link 10 100,523,729 100,529,923 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 22 42,085,526 42,090,772 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 11 67,606,936 67,612,554 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,114,817 206,159,444 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,199,315 161,214,395 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 18 9,102,642 9,134,341 RGD:8554872
RGD:7240710
G NDUFV2-AS1 NDUFV2 antisense RNA 1 JBrowse link 18 9,121,265 9,136,720 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,579,074 47,584,562 RGD:7240710
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 5 1,801,407 1,816,048 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16528
    Nutritional and Metabolic Diseases 4563
      disease of metabolism 4563
        mitochondrial metabolism disease 355
          mitochondrial complex I deficiency 66
            Mitochondrial Complex I Deficiency, Nuclear Type 1 12
            Mitochondrial Complex I Deficiency, Nuclear Type 10 2
            Mitochondrial Complex I Deficiency, Nuclear Type 11 1
            Mitochondrial Complex I Deficiency, Nuclear Type 12 1
            Mitochondrial Complex I Deficiency, Nuclear Type 13 2
            Mitochondrial Complex I Deficiency, Nuclear Type 14 1
            Mitochondrial Complex I Deficiency, Nuclear Type 15 1
            Mitochondrial Complex I Deficiency, Nuclear Type 16 1
            Mitochondrial Complex I Deficiency, Nuclear Type 17 1
            Mitochondrial Complex I Deficiency, Nuclear Type 18 1
            Mitochondrial Complex I Deficiency, Nuclear Type 19 1
            Mitochondrial Complex I Deficiency, Nuclear Type 2 1
            Mitochondrial Complex I Deficiency, Nuclear Type 20 3
            Mitochondrial Complex I Deficiency, Nuclear Type 21 4
            Mitochondrial Complex I Deficiency, Nuclear Type 22 1
            Mitochondrial Complex I Deficiency, Nuclear Type 23 1
            Mitochondrial Complex I Deficiency, Nuclear Type 24 2
            Mitochondrial Complex I Deficiency, Nuclear Type 25 1
            Mitochondrial Complex I Deficiency, Nuclear Type 26 1
            Mitochondrial Complex I Deficiency, Nuclear Type 27 1
            Mitochondrial Complex I Deficiency, Nuclear Type 28 1
            Mitochondrial Complex I Deficiency, Nuclear Type 29 1
            Mitochondrial Complex I Deficiency, Nuclear Type 3 1
            Mitochondrial Complex I Deficiency, Nuclear Type 30 1
            Mitochondrial Complex I Deficiency, Nuclear Type 31 1
            Mitochondrial Complex I Deficiency, Nuclear Type 32 1
            Mitochondrial Complex I Deficiency, Nuclear Type 33 1
            Mitochondrial Complex I Deficiency, Nuclear Type 4 1
            Mitochondrial Complex I Deficiency, Nuclear Type 5 1
            Mitochondrial Complex I Deficiency, Nuclear Type 6 1
            Mitochondrial Complex I Deficiency, Nuclear Type 7 2
            Mitochondrial Complex I Deficiency, Nuclear Type 8 1
            Mitochondrial Complex I Deficiency, Nuclear Type 9 1
Path 2
Term Annotations click to browse term
  disease 16528
    Developmental Diseases 10368
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8518
        genetic disease 7993
          inherited metabolic disorder 1953
            mitochondrial metabolism disease 355
              mitochondrial complex I deficiency 66
                Mitochondrial Complex I Deficiency, Nuclear Type 1 12
                Mitochondrial Complex I Deficiency, Nuclear Type 10 2
                Mitochondrial Complex I Deficiency, Nuclear Type 11 1
                Mitochondrial Complex I Deficiency, Nuclear Type 12 1
                Mitochondrial Complex I Deficiency, Nuclear Type 13 2
                Mitochondrial Complex I Deficiency, Nuclear Type 14 1
                Mitochondrial Complex I Deficiency, Nuclear Type 15 1
                Mitochondrial Complex I Deficiency, Nuclear Type 16 1
                Mitochondrial Complex I Deficiency, Nuclear Type 17 1
                Mitochondrial Complex I Deficiency, Nuclear Type 18 1
                Mitochondrial Complex I Deficiency, Nuclear Type 19 1
                Mitochondrial Complex I Deficiency, Nuclear Type 2 1
                Mitochondrial Complex I Deficiency, Nuclear Type 20 3
                Mitochondrial Complex I Deficiency, Nuclear Type 21 4
                Mitochondrial Complex I Deficiency, Nuclear Type 22 1
                Mitochondrial Complex I Deficiency, Nuclear Type 23 1
                Mitochondrial Complex I Deficiency, Nuclear Type 24 2
                Mitochondrial Complex I Deficiency, Nuclear Type 25 1
                Mitochondrial Complex I Deficiency, Nuclear Type 26 1
                Mitochondrial Complex I Deficiency, Nuclear Type 27 1
                Mitochondrial Complex I Deficiency, Nuclear Type 28 1
                Mitochondrial Complex I Deficiency, Nuclear Type 29 1
                Mitochondrial Complex I Deficiency, Nuclear Type 3 1
                Mitochondrial Complex I Deficiency, Nuclear Type 30 1
                Mitochondrial Complex I Deficiency, Nuclear Type 31 1
                Mitochondrial Complex I Deficiency, Nuclear Type 32 1
                Mitochondrial Complex I Deficiency, Nuclear Type 33 1
                Mitochondrial Complex I Deficiency, Nuclear Type 4 1
                Mitochondrial Complex I Deficiency, Nuclear Type 5 1
                Mitochondrial Complex I Deficiency, Nuclear Type 6 1
                Mitochondrial Complex I Deficiency, Nuclear Type 7 2
                Mitochondrial Complex I Deficiency, Nuclear Type 8 1
                Mitochondrial Complex I Deficiency, Nuclear Type 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.