Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the mitochondrion (HP:0012103)help
Parent Node:
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Abnormality of mitochondrial metabolism (HP:0003287)help
..Starting node
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Abnormal activity of mitochondrial respiratory chain (HP:0011922)help
Term ID: 11922
Name: Abnormal activity of mitochondrial respiratory chain
Synonym:
Definition: An increased or decreased activity of the mitochondrial respiratory chain.
Comments:
Reference: HP:0011922
Genes and Diseases:
 
       Child Nodes:
........expandDecreased activity of mitochondrial respiratory chain (HP:0008972) help
................... HP:0008314 Decreased activity of mitochondrial complex II
................... HP:0008347 Decreased activity of mitochondrial complex IV
................... HP:0011923 Decreased activity of mitochondrial complex I
................... HP:0011924 Decreased activity of mitochondrial complex III
................... HP:0011925 Decreased activity of mitochondrial ATP synthase complex
........expandIncreased activity of mitochondrial respiratory chain (HP:0040015) help

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandAbnormal iron deposition in mitochondria (HP:0008306) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandDecreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950) help
..expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
..expandDecreased plasma carnitine (HP:0003234) help
..expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
..expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
..expandMitochondrial depletion (HP:0030059) help
..expandMitochondrial lysine transport defect (HP:0008265) help
..expandMitochondrial malic enzyme reduced (HP:0003232) help
..expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
..expandMitochondrial respiratory chain defects (HP:0200125) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiency40
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiency26
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiency31
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiency50
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiency34
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiency3
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiency9
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB7 CL E G H47137702OMIM:620135
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiency16
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiency81
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiency65
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiency22
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiency27
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiency21
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiency38
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiency42
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiency74
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiency27
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiency89
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiency1
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiency4
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26HP:0040280 - Obligate4
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011922HP:0011922Abnormal activity of mitochondrial respiratory chain0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0011922HP:0040015Increased activity of mitochondrial respiratory chain1 CL E G H
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiency40
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiency26
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiency31
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiency50
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiency34
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiency3
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiency9
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB7 CL E G H47137702OMIM:620135
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiency16
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiency81
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiency65
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiency22
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiency27
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiency21
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiency38
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiency42
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiency74
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiency27
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiency89
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiency1
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiency4
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011922HP:0008972Decreased activity of mitochondrial respiratory chain1VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040280 - Obligate98
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate61
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate7
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate32
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate1
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate40
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate26
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate31
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate50
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate34
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate3
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate9
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB7 CL E G H47137702OMIM:620135
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate16
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate81
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate65
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate22
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate27
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate21
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate38
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate42
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate74
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate27
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate89
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0011922HP:0008314Decreased activity of mitochondrial complex II2SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate1
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate4
HP:0011922HP:0011925Decreased activity of mitochondrial ATP synthase complex2TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent101
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011922HP:0011924Decreased activity of mitochondrial complex III2UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011922HP:0008347Decreased activity of mitochondrial complex IV2VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0011922HP:0011923Decreased activity of mitochondrial complex I2VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056


Genes (121) :AARS2 ACAD9 AIFM1 ATP5F1D ATP5F1E ATPAF2 BCS1L BOLA3 CARS2 CHCHD10 COA3 COA5 COA6 COA8 COX15 COX16 COX20 COX4I1 COX5A COX6A2 CYC1 DGUOK EARS2 ECHS1 FOXRED1 GATC GFER GFM1 GTPBP3 IBA57 ISCU KARS1 LIPT1 LRPPRC LYRM7 MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS23 MRPS25 MTFMT MTRFR ND1 ND2 ND3 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NSUN3 NUBPL PDHA1 PET100 PET117 POLG PTCD3 QRSL1 RARS2 RRM2B SCO2 SDHA SDHB SDHD SLC19A3 SLC25A10 SLC25A26 SLC25A4 SLC39A8 SUCLA2 SUCLG1 SURF1 TACO1 TIMM22 TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT5 TRMU TRNE TSFM TXN2 UQCC2 VARS2

Diseases (105) :OMIM:614096 ORPHA:99901 OMIM:611126 OMIM:300816 OMIM:618120 OMIM:614053 OMIM:604273 OMIM:124000 OMIM:614299 ORPHA:477774 OMIM:616672 OMIM:616209 OMIM:619058 OMIM:616500 OMIM:616501 OMIM:619061 ORPHA:255241 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:619064 OMIM:619062 OMIM:615453 OMIM:251880 OMIM:614924 ORPHA:2609 OMIM:618241 OMIM:618839 OMIM:613076 OMIM:609060 ORPHA:444013 ORPHA:468661 OMIM:255125 OMIM:619147 ORPHA:70472 OMIM:615838 ORPHA:508093 OMIM:615084 OMIM:619024 OMIM:256810 OMIM:618567 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:618952 OMIM:619025 OMIM:618248 OMIM:613559 OMIM:618236 OMIM:618244 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618247 OMIM:618240 OMIM:618237 OMIM:618238 OMIM:618239 OMIM:618776 OMIM:619003 OMIM:620135 OMIM:618245 OMIM:619170 OMIM:618230 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:619386 OMIM:605711 OMIM:619012 OMIM:618242 OMIM:619055 OMIM:619063 OMIM:613662 OMIM:619057 OMIM:618835 OMIM:611523 OMIM:612075 OMIM:604377 OMIM:613642 OMIM:252011 OMIM:619224 OMIM:619167 OMIM:618972 OMIM:616794 OMIM:615418 OMIM:617184 ORPHA:468699 OMIM:612073 ORPHA:17 OMIM:245400 OMIM:618851 ORPHA:505216 OMIM:618251 OMIM:609560 OMIM:617069 OMIM:614052 OMIM:617873 OMIM:616539 ORPHA:254864 OMIM:610505 ORPHA:478029 OMIM:616811 OMIM:615824 OMIM:615917
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.