Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal cellular physiology (HP:0011017)help
..Starting node
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Abnormality of the mitochondrion (HP:0012103)help
Term ID: 12103
Name: Abnormality of the mitochondrion
Synonym: Mitochondrial abnormalities
Definition: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Comments:
Reference: HP:0012103
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of mitochondrial metabolism (HP:0003287) help
................... HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
................... HP:0003232 Mitochondrial malic enzyme reduced
................... HP:0003234 Decreased plasma carnitine
................... HP:0003288 Mitochondrial propionyl-CoA carboxylase defect
................... HP:0003514 Deficiency or absence of cytochrome b(-245)
................... HP:0003535 3-Methylglutaconic aciduria
................... HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect
................... HP:0008265 Mitochondrial lysine transport defect
................... HP:0008306 Abnormal iron deposition in mitochondria
................... HP:0008316 Abnormal mitochondria in muscle tissue
................... HP:0011922 Abnormal activity of mitochondrial respiratory chain
................... HP:0030059 Mitochondrial depletion
................... HP:0100950 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
................... HP:0200125 Mitochondrial respiratory chain defects
........expandAbnormal mitochondrial morphology (HP:0008322) help
................... HP:0012087 Abnormal mitochondrial shape
................... HP:0012102 Abnormal mitochondrial number

 Sister Nodes: 
..expandAbnormality of B cell physiology (HP:0005372) help
..expandAbnormality of chromosome condensation (HP:0011019) help
..expandAbnormality of chromosome segregation (HP:0002916) help
..expandAbnormality of chromosome stability (HP:0003220) help
..expandAbnormality of DNA repair (HP:0003254) help
..expandAbnormality of lysosomal metabolism (HP:0004356) help
..expandAbnormality of T cell physiology (HP:0011840) help
..expandAbnormality of the cell cycle (HP:0011018) help
..expandIncreased cellular sensitivity to UV light (HP:0003224) help
..expandIncreased sensitivity to ionizing radiation (HP:0011133) help
..expandIntracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) 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:0012103HP:0012103Abnormality of the mitochondrion0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0012103HP:0012103Abnormality of the mitochondrion0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiency58
HP:0012103HP:0012103Abnormality of the mitochondrion0ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency58
HP:0012103HP:0012103Abnormality of the mitochondrion0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0012103HP:0012103Abnormality of the mitochondrion0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0012103HP:0012103Abnormality of the mitochondrion0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of197
HP:0012103HP:0012103Abnormality of the mitochondrion0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0012103HP:0012103Abnormality of the mitochondrion0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0012103HP:0012103Abnormality of the mitochondrion0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0012103HP:0012103Abnormality of the mitochondrion0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0012103HP:0012103Abnormality of the mitochondrion0AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0012103HP:0012103Abnormality of the mitochondrion0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103HP:0012103Abnormality of the mitochondrion0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103HP:0012103Abnormality of the mitochondrion0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0012103HP:0012103Abnormality of the mitochondrion0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0012103HP:0012103Abnormality of the mitochondrion0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0012103HP:0012103Abnormality of the mitochondrion0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0012103HP:0012103Abnormality of the mitochondrion0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0012103HP:0012103Abnormality of the mitochondrion0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0012103HP:0012103Abnormality of the mitochondrion0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0012103HP:0012103Abnormality of the mitochondrion0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0012103HP:0012103Abnormality of the mitochondrion0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0012103HP:0012103Abnormality of the mitochondrion0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0012103HP:0012103Abnormality of the mitochondrion0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0012103HP:0012103Abnormality of the mitochondrion0COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0012103HP:0012103Abnormality of the mitochondrion0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0012103HP:0012103Abnormality of the mitochondrion0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103HP:0012103Abnormality of the mitochondrion0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0012103HP:0012103Abnormality of the mitochondrion0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0012103HP:0012103Abnormality of the mitochondrion0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0COX1 CL E G H45127419ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0012103HP:0012103Abnormality of the mitochondrion0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103HP:0012103Abnormality of the mitochondrion0COX2 CL E G H45137421ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0012103HP:0012103Abnormality of the mitochondrion0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0COX3 CL E G H45147422ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103HP:0012103Abnormality of the mitochondrion0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103HP:0012103Abnormality of the mitochondrion0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103HP:0012103Abnormality of the mitochondrion0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0012103HP:0012103Abnormality of the mitochondrion0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0012103HP:0012103Abnormality of the mitochondrion0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0012103HP:0012103Abnormality of the mitochondrion0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0012103HP:0012103Abnormality of the mitochondrion0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0012103HP:0012103Abnormality of the mitochondrion0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0012103HP:0012103Abnormality of the mitochondrion0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0012103HP:0012103Abnormality of the mitochondrion0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0012103HP:0012103Abnormality of the mitochondrion0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0012103HP:0012103Abnormality of the mitochondrion0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0012103HP:0012103Abnormality of the mitochondrion0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0012103HP:0012103Abnormality of the mitochondrion0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0012103HP:0012103Abnormality of the mitochondrion0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040281 - Very frequent94
HP:0012103HP:0012103Abnormality of the mitochondrion0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0012103HP:0012103Abnormality of the mitochondrion0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0012103HP:0012103Abnormality of the mitochondrion0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0012103HP:0012103Abnormality of the mitochondrion0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0012103HP:0012103Abnormality of the mitochondrion0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndrome2
HP:0012103HP:0012103Abnormality of the mitochondrion0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0012103HP:0012103Abnormality of the mitochondrion0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0012103HP:0012103Abnormality of the mitochondrion0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0012103HP:0012103Abnormality of the mitochondrion0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0012103HP:0012103Abnormality of the mitochondrion0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012103HP:0012103Abnormality of the mitochondrion0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0012103HP:0012103Abnormality of the mitochondrion0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0012103HP:0012103Abnormality of the mitochondrion0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0012103HP:0012103Abnormality of the mitochondrion0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0012103HP:0012103Abnormality of the mitochondrion0FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0012103HP:0012103Abnormality of the mitochondrion0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0012103HP:0012103Abnormality of the mitochondrion0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndrome86
HP:0012103HP:0012103Abnormality of the mitochondrion0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0012103HP:0012103Abnormality of the mitochondrion0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0012103HP:0012103Abnormality of the mitochondrion0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103HP:0012103Abnormality of the mitochondrion0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0012103HP:0012103Abnormality of the mitochondrion0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0012103HP:0012103Abnormality of the mitochondrion0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0012103HP:0012103Abnormality of the mitochondrion0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0012103HP:0012103Abnormality of the mitochondrion0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0012103HP:0012103Abnormality of the mitochondrion0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0012103HP:0012103Abnormality of the mitochondrion0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0012103HP:0012103Abnormality of the mitochondrion0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency99
HP:0012103HP:0012103Abnormality of the mitochondrion0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0012103HP:0012103Abnormality of the mitochondrion0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0012103HP:0012103Abnormality of the mitochondrion0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0012103HP:0012103Abnormality of the mitochondrion0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0012103HP:0012103Abnormality of the mitochondrion0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0012103HP:0012103Abnormality of the mitochondrion0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0012103HP:0012103Abnormality of the mitochondrion0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0012103HP:0012103Abnormality of the mitochondrion0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103HP:0012103Abnormality of the mitochondrion0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0012103HP:0012103Abnormality of the mitochondrion0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0012103HP:0012103Abnormality of the mitochondrion0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0012103HP:0012103Abnormality of the mitochondrion0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0012103HP:0012103Abnormality of the mitochondrion0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0012103HP:0012103Abnormality of the mitochondrion0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0012103HP:0012103Abnormality of the mitochondrion0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012103HP:0012103Abnormality of the mitochondrion0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0012103HP:0012103Abnormality of the mitochondrion0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0012103HP:0012103Abnormality of the mitochondrion0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0012103HP:0012103Abnormality of the mitochondrion0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103HP:0012103Abnormality of the mitochondrion0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0012103HP:0012103Abnormality of the mitochondrion0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0012103HP:0012103Abnormality of the mitochondrion0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103HP:0012103Abnormality of the mitochondrion0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0012103HP:0012103Abnormality of the mitochondrion0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0012103HP:0012103Abnormality of the mitochondrion0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0012103HP:0012103Abnormality of the mitochondrion0MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103HP:0012103Abnormality of the mitochondrion0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103HP:0012103Abnormality of the mitochondrion0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0012103HP:0012103Abnormality of the mitochondrion0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0012103HP:0012103Abnormality of the mitochondrion0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0012103HP:0012103Abnormality of the mitochondrion0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0012103HP:0012103Abnormality of the mitochondrion0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0012103HP:0012103Abnormality of the mitochondrion0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0012103HP:0012103Abnormality of the mitochondrion0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0012103HP:0012103Abnormality of the mitochondrion0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND1 CL E G H45357455ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND4 CL E G H45387459ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND5 CL E G H45407461ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0012103Abnormality of the mitochondrion0ND6 CL E G H45417462ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiency40
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiency26
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiency31
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiency50
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiency34
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndrome39
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiency3
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiency9
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB7 CL E G H47137702OMIM:620135
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiency16
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiency81
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiency65
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiency22
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiency27
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiency21
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiency38
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiency42
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiency74
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiency27
HP:0012103HP:0012103Abnormality of the mitochondrion0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0012103Abnormality of the mitochondrion0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0012103HP:0012103Abnormality of the mitochondrion0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0012103HP:0012103Abnormality of the mitochondrion0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0012103HP:0012103Abnormality of the mitochondrion0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012103HP:0012103Abnormality of the mitochondrion0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiency89
HP:0012103HP:0012103Abnormality of the mitochondrion0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0012103HP:0012103Abnormality of the mitochondrion0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0012103HP:0012103Abnormality of the mitochondrion0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0012103HP:0012103Abnormality of the mitochondrion0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0012103HP:0012103Abnormality of the mitochondrion0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0012103HP:0012103Abnormality of the mitochondrion0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0012103HP:0012103Abnormality of the mitochondrion0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency52
HP:0012103HP:0012103Abnormality of the mitochondrion0PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiency52
HP:0012103HP:0012103Abnormality of the mitochondrion0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0012103HP:0012103Abnormality of the mitochondrion0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0012103HP:0012103Abnormality of the mitochondrion0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0012103HP:0012103Abnormality of the mitochondrion0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type)45
HP:0012103HP:0012103Abnormality of the mitochondrion0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0012103HP:0012103Abnormality of the mitochondrion0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0012103HP:0012103Abnormality of the mitochondrion0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012103HP:0012103Abnormality of the mitochondrion0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012103HP:0012103Abnormality of the mitochondrion0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0012103HP:0012103Abnormality of the mitochondrion0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0012103HP:0012103Abnormality of the mitochondrion0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0012103HP:0012103Abnormality of the mitochondrion0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0012103HP:0012103Abnormality of the mitochondrion0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0012103HP:0012103Abnormality of the mitochondrion0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0012103HP:0012103Abnormality of the mitochondrion0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0012103HP:0012103Abnormality of the mitochondrion0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040281 - Very frequent35
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndrome47
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0012103HP:0012103Abnormality of the mitochondrion0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0012103HP:0012103Abnormality of the mitochondrion0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron disease62
HP:0012103HP:0012103Abnormality of the mitochondrion0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0012103HP:0012103Abnormality of the mitochondrion0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0012103HP:0012103Abnormality of the mitochondrion0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012103HP:0012103Abnormality of the mitochondrion0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0012103HP:0012103Abnormality of the mitochondrion0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0012103HP:0012103Abnormality of the mitochondrion0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0012103HP:0012103Abnormality of the mitochondrion0TAFAZZIN CL E G H690111577ORPHA:111Barth syndrome
HP:0012103HP:0012103Abnormality of the mitochondrion0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron disease65
HP:0012103HP:0012103Abnormality of the mitochondrion0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron disease20
HP:0012103HP:0012103Abnormality of the mitochondrion0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012103HP:0012103Abnormality of the mitochondrion0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0012103HP:0012103Abnormality of the mitochondrion0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiency1
HP:0012103HP:0012103Abnormality of the mitochondrion0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0012103HP:0012103Abnormality of the mitochondrion0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0012103HP:0012103Abnormality of the mitochondrion0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0012103HP:0012103Abnormality of the mitochondrion0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiency4
HP:0012103HP:0012103Abnormality of the mitochondrion0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0012103HP:0012103Abnormality of the mitochondrion0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0012103HP:0012103Abnormality of the mitochondrion0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0012103HP:0012103Abnormality of the mitochondrion0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0012103HP:0012103Abnormality of the mitochondrion0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNF CL E G H45587481ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNH CL E G H45647487ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TRNW CL E G H45787501ORPHA:550MELAS
HP:0012103HP:0012103Abnormality of the mitochondrion0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0012103HP:0012103Abnormality of the mitochondrion0TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0012103HP:0012103Abnormality of the mitochondrion0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0012103HP:0012103Abnormality of the mitochondrion0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0012103HP:0012103Abnormality of the mitochondrion0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0012103HP:0012103Abnormality of the mitochondrion0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0012103HP:0012103Abnormality of the mitochondrion0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0012103HP:0012103Abnormality of the mitochondrion0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0012103HP:0012103Abnormality of the mitochondrion0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron disease63
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiency58
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency58
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of197
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0012103HP:0008322Abnormal mitochondrial morphology1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0012103HP:0008322Abnormal mitochondrial morphology1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0012103HP:0008322Abnormal mitochondrial morphology1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX1 CL E G H45127419ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX2 CL E G H45137421ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX3 CL E G H45147422ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0012103HP:0008322Abnormal mitochondrial morphology1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040282 - Frequent145
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndrome2
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0012103HP:0008322Abnormal mitochondrial morphology1FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0012103HP:0008322Abnormal mitochondrial morphology1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndrome86
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0012103HP:0008322Abnormal mitochondrial morphology1GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0012103HP:0008322Abnormal mitochondrial morphology1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency99
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040281 - Very frequent19
HP:0012103HP:0008322Abnormal mitochondrial morphology1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0012103HP:0008322Abnormal mitochondrial morphology1LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012103HP:0008322Abnormal mitochondrial morphology1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0012103HP:0008322Abnormal mitochondrial morphology1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0012103HP:0008322Abnormal mitochondrial morphology1MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0012103HP:0008322Abnormal mitochondrial morphology1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND1 CL E G H45357455ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND4 CL E G H45387459ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND5 CL E G H45407461ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND6 CL E G H45417462ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiency40
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiency26
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiency31
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiency50
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiency34
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndrome39
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiency3
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiency9
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB7 CL E G H47137702OMIM:620135
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiency16
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiency81
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiency65
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiency22
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiency27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiency21
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiency38
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiency42
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiency74
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiency27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiency89
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency52
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiency52
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0012103HP:0008322Abnormal mitochondrial morphology1PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndrome47
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0012103HP:0008322Abnormal mitochondrial morphology1SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0012103HP:0008322Abnormal mitochondrial morphology1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0012103HP:0008322Abnormal mitochondrial morphology1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0012103HP:0008322Abnormal mitochondrial morphology1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0012103HP:0008322Abnormal mitochondrial morphology1TAFAZZIN CL E G H690111577ORPHA:111Barth syndromeHP:0040282 - Frequent
HP:0012103HP:0008322Abnormal mitochondrial morphology1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0012103HP:0008322Abnormal mitochondrial morphology1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiency1
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiency4
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNF CL E G H45587481ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNH CL E G H45647487ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNQ CL E G H45727495ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNW CL E G H45787501ORPHA:550MELAS
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0012103HP:0008322Abnormal mitochondrial morphology1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0012103HP:0008265Mitochondrial lysine transport defect2 CL E G H
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2 CL E G H
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0012103HP:0003234Decreased plasma carnitine2ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency.58
HP:0012103HP:0003234Decreased plasma carnitine2ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent58
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0012103HP:0003234Decreased plasma carnitine2ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0012103HP:0003234Decreased plasma carnitine2ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0012103HP:0003234Decreased plasma carnitine2ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0012103HP:0003234Decreased plasma carnitine2ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0012103HP:0200125Mitochondrial respiratory chain defects2CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0012103HP:0012102Abnormal mitochondrial number2CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COA5 CL E G H49375333848OMIM:616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103HP:0003234Decreased plasma carnitine2COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0012103HP:0003234Decreased plasma carnitine2COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0012103HP:0200125Mitochondrial respiratory chain defects2COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0012103HP:0200125Mitochondrial respiratory chain defects2COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103HP:0003234Decreased plasma carnitine2CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0012103HP:0003234Decreased plasma carnitine2CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0012103HP:0003234Decreased plasma carnitine2CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0012103HP:0003234Decreased plasma carnitine2CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0012103HP:0200125Mitochondrial respiratory chain defects2CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0012103HP:0200125Mitochondrial respiratory chain defects2CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0012103HP:0003234Decreased plasma carnitine2DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0012103HP:0012102Abnormal mitochondrial number2DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0012103HP:0200125Mitochondrial respiratory chain defects2DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0012103HP:0003234Decreased plasma carnitine2EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent2
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0012103HP:0200125Mitochondrial respiratory chain defects2FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0012103HP:0012087Abnormal mitochondrial shape2FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040282 - Frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0012103HP:0003234Decreased plasma carnitine2GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent86
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0012103HP:0012087Abnormal mitochondrial shape2GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0012103HP:0012102Abnormal mitochondrial number2GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0012103HP:0003234Decreased plasma carnitine2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040280 - Obligate41
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.99
HP:0012103HP:0003234Decreased plasma carnitine2HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0012103HP:0012087Abnormal mitochondrial shape2LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0012103HP:0003234Decreased plasma carnitine2MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012103HP:0012087Abnormal mitochondrial shape2MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0012103HP:0012102Abnormal mitochondrial number2MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103HP:0003234Decreased plasma carnitine2MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0012103HP:0012087Abnormal mitochondrial shape2MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0012103HP:0003234Decreased plasma carnitine2NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0012103HP:0003234Decreased plasma carnitine2NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:001