Human Phenotype Ontology 
Grandparent Node:
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Abnormality of acid-base homeostasis (HP:0004360)help
Parent Node:
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Acidosis (HP:0001941)help
..Starting node
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Lactic acidosis (HP:0003128)help
Term ID: 3128
Name: Lactic acidosis
Synonym: Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis
Definition: An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Comments:
Reference: HP:0003128
Genes and Diseases:
 
       Child Nodes:
........expandLacticaciduria (HP:0003648) help
........expandStress/infection-induced lactic acidosis (HP:0004897) help
........expandPersistent lactic acidosis (HP:0004898) help
........expandSevere lactic acidosis (HP:0004900) help
........expandExercise-induced lactic acidemia (HP:0004901) help
........expandCongenital lactic acidosis (HP:0004902) help
........expandIntermittent lactic acidemia (HP:0004913) help
........expandChronic lactic acidosis (HP:0004925) help

 Sister Nodes: 
..expandChronic acidosis (HP:0012468) help
..expandDicarboxylic acidemia (HP:0040145) help
..expandElevated circulating glutaric acid concentration (HP:0003530) help
..expandHyperchloremic acidosis (HP:0001995) help
..expandIncreased serum lactate (HP:0002151) help
..expandKetoacidosis (HP:0001993) help
..expandMetabolic acidosis (HP:0001942) help
..expandMethylmalonic acidemia (HP:0002912) help
..expandOroticaciduria (HP:0003218) help
..expandPhenylpyruvic acidemia (HP:0004920) help
..expandPropionic acidemia (HP:0003571) help
..expandRenal tubular acidosis (HP:0001947) help
..expandRespiratory acidosis (HP:0005972) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003128HP:0003128Lactic acidosis0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0003128Lactic acidosis0ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0003128Lactic acidosis0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0003128Lactic acidosis0AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0003128Lactic acidosis0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0003128Lactic acidosis0APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0003128Lactic acidosis0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0003128Lactic acidosis0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0003128Lactic acidosis0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0003128Lactic acidosis0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0003128Lactic acidosis0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0003128Lactic acidosis0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0003128Lactic acidosis0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0003128Lactic acidosis0CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0003128Lactic acidosis0CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0003128Lactic acidosis0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0003128Lactic acidosis0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0003128Lactic acidosis0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0003128Lactic acidosis0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0003128Lactic acidosis0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0003128Lactic acidosis0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0003128Lactic acidosis0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0003128Lactic acidosis0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0003128Lactic acidosis0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0003128Lactic acidosis0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0003128Lactic acidosis0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0003128Lactic acidosis0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0003128Lactic acidosis0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0003128Lactic acidosis0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0003128Lactic acidosis0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0003128Lactic acidosis0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0003128Lactic acidosis0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0003128Lactic acidosis0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0003128Lactic acidosis0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0003128Lactic acidosis0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0003128Lactic acidosis0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0003128Lactic acidosis0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0003128Lactic acidosis0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0003128Lactic acidosis0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0003128Lactic acidosis0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0003128Lactic acidosis0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0003128Lactic acidosis0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0003128Lactic acidosis0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0003128Lactic acidosis0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0003128Lactic acidosis0GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0003128Lactic acidosis0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0003128Lactic acidosis0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0003128Lactic acidosis0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0003128Lactic acidosis0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0003128Lactic acidosis0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0003128Lactic acidosis0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0003128Lactic acidosis0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0003128Lactic acidosis0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0003128Lactic acidosis0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0003128Lactic acidosis0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0003128Lactic acidosis0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0003128Lactic acidosis0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0003128Lactic acidosis0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0003128Lactic acidosis0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0003128Lactic acidosis0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0003128Lactic acidosis0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0003128Lactic acidosis0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0003128Lactic acidosis0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0003128Lactic acidosis0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0003128Lactic acidosis0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0003128Lactic acidosis0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0003128Lactic acidosis0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0003128Lactic acidosis0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0003128Lactic acidosis0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0003128Lactic acidosis0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0003128Lactic acidosis0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0003128Lactic acidosis0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0003128Lactic acidosis0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0003128Lactic acidosis0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0003128Lactic acidosis0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0003128Lactic acidosis0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0003128Lactic acidosis0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0003128Lactic acidosis0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0003128Lactic acidosis0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0003128Lactic acidosis0MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0003128Lactic acidosis0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0003128Lactic acidosis0MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0003128Lactic acidosis0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0003128Lactic acidosis0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0003128Lactic acidosis0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0003128Lactic acidosis0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0003128Lactic acidosis0MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0003128Lactic acidosis0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0003128Lactic acidosis0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0003128Lactic acidosis0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0003128Lactic acidosis0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0003128Lactic acidosis0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0003128Lactic acidosis0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0003128Lactic acidosis0MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0003128Lactic acidosis0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0003128Lactic acidosis0MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0003128Lactic acidosis0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0003128Lactic acidosis0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0003128Lactic acidosis0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0003128Lactic acidosis0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0003128Lactic acidosis0NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0003128Lactic acidosis0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0003128Lactic acidosis0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0003128Lactic acidosis0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0003128Lactic acidosis0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0003128Lactic acidosis0PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0003128Lactic acidosis0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0003128Lactic acidosis0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0003128Lactic acidosis0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0003128Lactic acidosis0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0003128Lactic acidosis0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0003128Lactic acidosis0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0003128Lactic acidosis0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0003128Lactic acidosis0PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0003128Lactic acidosis0PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0003128Lactic acidosis0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0003128Lactic acidosis0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0003128Lactic acidosis0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0003128Lactic acidosis0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0003128Lactic acidosis0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0003128Lactic acidosis0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0003128Lactic acidosis0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0003128Lactic acidosis0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0003128Lactic acidosis0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0003128Lactic acidosis0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0003128Lactic acidosis0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0003128Lactic acidosis0SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0003128Lactic acidosis0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0003128Lactic acidosis0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0003128Lactic acidosis0SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0003128Lactic acidosis0SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0003128Lactic acidosis0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0003128Lactic acidosis0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0003128Lactic acidosis0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0003128Lactic acidosis0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0003128Lactic acidosis0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0003128Lactic acidosis0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0003128Lactic acidosis0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0003128Lactic acidosis0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0003128Lactic acidosis0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0003128Lactic acidosis0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0003128Lactic acidosis0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0003128Lactic acidosis0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0003128Lactic acidosis0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0003128Lactic acidosis0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0003128Lactic acidosis0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0003128Lactic acidosis0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0003128Lactic acidosis0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0003128Lactic acidosis0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004902Congenital lactic acidosis1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004900Severe lactic acidosis1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004925Chronic lactic acidosis1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004898Persistent lactic acidosis1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004913Intermittent lactic acidemia1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004901Exercise-induced lactic acidemia1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0003128HP:0004900Severe lactic acidosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004902Congenital lactic acidosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004898Persistent lactic acidosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004925Chronic lactic acidosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004913Intermittent lactic acidemia1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004901Exercise-induced lactic acidemia1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0003128HP:0004900Severe lactic acidosis1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004902Congenital lactic acidosis1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004898Persistent lactic acidosis1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004925Chronic lactic acidosis1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004913Intermittent lactic acidemia1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004901Exercise-induced lactic acidemia1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0003128HP:0004902Congenital lactic acidosis1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004900Severe lactic acidosis1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004925Chronic lactic acidosis1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004898Persistent lactic acidosis1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004913Intermittent lactic acidemia1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004901Exercise-induced lactic acidemia1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1AGK CL E G H557501369ORPHA134721869610345
HP:0003128HP:0004902Congenital lactic acidosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004900Severe lactic acidosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004925Chronic lactic acidosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004898Persistent lactic acidosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004913Intermittent lactic acidemia1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004901Exercise-induced lactic acidemia1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0003128HP:0004900Severe lactic acidosis1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004902Congenital lactic acidosis1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004898Persistent lactic acidosis1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004925Chronic lactic acidosis1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004913Intermittent lactic acidemia1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004901Exercise-induced lactic acidemia1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0003128HP:0004902Congenital lactic acidosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004900Severe lactic acidosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004925Chronic lactic acidosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004898Persistent lactic acidosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004913Intermittent lactic acidemia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004901Exercise-induced lactic acidemia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0003128HP:0004900Severe lactic acidosis1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004902Congenital lactic acidosis1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004898Persistent lactic acidosis1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004925Chronic lactic acidosis1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004913Intermittent lactic acidemia1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004901Exercise-induced lactic acidemia1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0003128HP:0004902Congenital lactic acidosis1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004900Severe lactic acidosis1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004925Chronic lactic acidosis1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004898Persistent lactic acidosis1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004913Intermittent lactic acidemia1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004901Exercise-induced lactic acidemia1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0003128HP:0004902Congenital lactic acidosis1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004900Severe lactic acidosis1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004898Persistent lactic acidosis1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004925Chronic lactic acidosis1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004913Intermittent lactic acidemia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004901Exercise-induced lactic acidemia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0003128HP:0004902Congenital lactic acidosis1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004900Severe lactic acidosis1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004925Chronic lactic acidosis1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004898Persistent lactic acidosis1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004913Intermittent lactic acidemia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004901Exercise-induced lactic acidemia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0003128HP:0004902Congenital lactic acidosis1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004900Severe lactic acidosis1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004925Chronic lactic acidosis1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004898Persistent lactic acidosis1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004913Intermittent lactic acidemia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004901Exercise-induced lactic acidemia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0003128HP:0004902Congenital lactic acidosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004900Severe lactic acidosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004925Chronic lactic acidosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004898Persistent lactic acidosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004913Intermittent lactic acidemia1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004901Exercise-induced lactic acidemia1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0003128HP:0004902Congenital lactic acidosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004900Severe lactic acidosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004925Chronic lactic acidosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004898Persistent lactic acidosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004913Intermittent lactic acidemia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004901Exercise-induced lactic acidemia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0003128HP:0004902Congenital lactic acidosis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004900Severe lactic acidosis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004925Chronic lactic acidosis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004898Persistent lactic acidosis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004913Intermittent lactic acidemia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004901Exercise-induced lactic acidemia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0003128HP:0004902Congenital lactic acidosis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004900Severe lactic acidosis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004925Chronic lactic acidosis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004898Persistent lactic acidosis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004913Intermittent lactic acidemia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004901Exercise-induced lactic acidemia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0003128HP:0004902Congenital lactic acidosis1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004900Severe lactic acidosis1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004925Chronic lactic acidosis1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004898Persistent lactic acidosis1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004913Intermittent lactic acidemia1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004901Exercise-induced lactic acidemia1CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM12231377114761
HP:0003128HP:0004900Severe lactic acidosis1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004902Congenital lactic acidosis1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004898Persistent lactic acidosis1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004925Chronic lactic acidosis1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004913Intermittent lactic acidemia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004901Exercise-induced lactic acidemia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0003128HP:0004902Congenital lactic acidosis1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004900Severe lactic acidosis1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004925Chronic lactic acidosis1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004898Persistent lactic acidosis1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004913Intermittent lactic acidemia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004901Exercise-induced lactic acidemia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0003128HP:0004902Congenital lactic acidosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004900Severe lactic acidosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004925Chronic lactic acidosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004898Persistent lactic acidosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004913Intermittent lactic acidemia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004901Exercise-induced lactic acidemia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0003128HP:0004902Congenital lactic acidosis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004900Severe lactic acidosis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004898Persistent lactic acidosis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004925Chronic lactic acidosis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004913Intermittent lactic acidemia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004901Exercise-induced lactic acidemia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0003128HP:0004902Congenital lactic acidosis1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004900Severe lactic acidosis1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004925Chronic lactic acidosis1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004898Persistent lactic acidosis1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004913Intermittent lactic acidemia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004901Exercise-induced lactic acidemia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0003128HP:0004902Congenital lactic acidosis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004900Severe lactic acidosis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004925Chronic lactic acidosis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004898Persistent lactic acidosis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004913Intermittent lactic acidemia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004901Exercise-induced lactic acidemia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0003128HP:0004902Congenital lactic acidosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004900Severe lactic acidosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004925Chronic lactic acidosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004898Persistent lactic acidosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004913Intermittent lactic acidemia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0003128HP:0004902Congenital lactic acidosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004900Severe lactic acidosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004925Chronic lactic acidosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004898Persistent lactic acidosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004913Intermittent lactic acidemia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0003128HP:0004902Congenital lactic acidosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004900Severe lactic acidosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004925Chronic lactic acidosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004898Persistent lactic acidosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004913Intermittent lactic acidemia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0003128HP:0004900Severe lactic acidosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004902Congenital lactic acidosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004898Persistent lactic acidosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004925Chronic lactic acidosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004913Intermittent lactic acidemia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0003128HP:0004900Severe lactic acidosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004902Congenital lactic acidosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004898Persistent lactic acidosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004925Chronic lactic acidosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004913Intermittent lactic acidemia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0003128HP:0004902Congenital lactic acidosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004900Severe lactic acidosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004925Chronic lactic acidosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004898Persistent lactic acidosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004913Intermittent lactic acidemia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0003128HP:0004900Severe lactic acidosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004902Congenital lactic acidosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004925Chronic lactic acidosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004898Persistent lactic acidosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004913Intermittent lactic acidemia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004901Exercise-induced lactic acidemia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0003128HP:0004902Congenital lactic acidosis1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004900Severe lactic acidosis1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004925Chronic lactic acidosis1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004898Persistent lactic acidosis1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004913Intermittent lactic acidemia1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004901Exercise-induced lactic acidemia1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11612579123980
HP:0003128HP:0004900Severe lactic acidosis1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004902Congenital lactic acidosis1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004898Persistent lactic acidosis1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004925Chronic lactic acidosis1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004913Intermittent lactic acidemia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004901Exercise-induced lactic acidemia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0003128HP:0004902Congenital lactic acidosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004900Severe lactic acidosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004925Chronic lactic acidosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004898Persistent lactic acidosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004913Intermittent lactic acidemia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004901Exercise-induced lactic acidemia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0003128HP:0004900Severe lactic acidosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004902Congenital lactic acidosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004898Persistent lactic acidosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004925Chronic lactic acidosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004913Intermittent lactic acidemia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004901Exercise-induced lactic acidemia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0003128HP:0004900Severe lactic acidosis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004902Congenital lactic acidosis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004898Persistent lactic acidosis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004925Chronic lactic acidosis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004913Intermittent lactic acidemia1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004901Exercise-induced lactic acidemia1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0003128HP:0004902Congenital lactic acidosis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004900Severe lactic acidosis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004925Chronic lactic acidosis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004898Persistent lactic acidosis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004913Intermittent lactic acidemia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004901Exercise-induced lactic acidemia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0003128HP:0004902Congenital lactic acidosis1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004900Severe lactic acidosis1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004898Persistent lactic acidosis1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004925Chronic lactic acidosis1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004913Intermittent lactic acidemia1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004901Exercise-induced lactic acidemia1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM15912973603850
HP:0003128HP:0004902Congenital lactic acidosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004900Severe lactic acidosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004925Chronic lactic acidosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004898Persistent lactic acidosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004913Intermittent lactic acidemia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004901Exercise-induced lactic acidemia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0003128HP:0004902Congenital lactic acidosis1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004900Severe lactic acidosis1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004925Chronic lactic acidosis1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004898Persistent lactic acidosis1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004913Intermittent lactic acidemia1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004901Exercise-induced lactic acidemia1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0003128HP:0004902Congenital lactic acidosis1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004900Severe lactic acidosis1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004925Chronic lactic acidosis1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004898Persistent lactic acidosis1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004913Intermittent lactic acidemia1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004901Exercise-induced lactic acidemia1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0003128HP:0004902Congenital lactic acidosis1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004900Severe lactic acidosis1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004925Chronic lactic acidosis1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004898Persistent lactic acidosis1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004913Intermittent lactic acidemia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004901Exercise-induced lactic acidemia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0003128HP:0004900Severe lactic acidosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004902Congenital lactic acidosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004898Persistent lactic acidosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004925Chronic lactic acidosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004913Intermittent lactic acidemia1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004901Exercise-induced lactic acidemia1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0003128HP:0004902Congenital lactic acidosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004900Severe lactic acidosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004925Chronic lactic acidosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004898Persistent lactic acidosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004913Intermittent lactic acidemia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004901Exercise-induced lactic acidemia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0003128HP:0004902Congenital lactic acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004900Severe lactic acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004925Chronic lactic acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004898Persistent lactic acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004913Intermittent lactic acidemia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004901Exercise-induced lactic acidemia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0003128HP:0004902Congenital lactic acidosis1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004900Severe lactic acidosis1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004925Chronic lactic acidosis1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004898Persistent lactic acidosis1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004913Intermittent lactic acidemia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004901Exercise-induced lactic acidemia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0003128HP:0004902Congenital lactic acidosis1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004900Severe lactic acidosis1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004925Chronic lactic acidosis1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004898Persistent lactic acidosis1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004913Intermittent lactic acidemia1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004901Exercise-induced lactic acidemia1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0003128HP:0004902Congenital lactic acidosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004900Severe lactic acidosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004925Chronic lactic acidosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004898Persistent lactic acidosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004913Intermittent lactic acidemia1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004901Exercise-induced lactic acidemia1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0003128HP:0004902Congenital lactic acidosis1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004900Severe lactic acidosis1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004925Chronic lactic acidosis1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004898Persistent lactic acidosis1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004913Intermittent lactic acidemia1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004901Exercise-induced lactic acidemia1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1GFER CL E G H2671330054ORPHA12004236600924
HP:0003128HP:0004902Congenital lactic acidosis1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004900Severe lactic acidosis1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004925Chronic lactic acidosis1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004898Persistent lactic acidosis1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004913Intermittent lactic acidemia1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004901Exercise-induced lactic acidemia1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM146614880608536
HP:0003128HP:0004900Severe lactic acidosis1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004902Congenital lactic acidosis1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004898Persistent lactic acidosis1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004925Chronic lactic acidosis1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004913Intermittent lactic acidemia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004901Exercise-induced lactic acidemia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0003128HP:0004902Congenital lactic acidosis1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004900Severe lactic acidosis1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004925Chronic lactic acidosis1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004898Persistent lactic acidosis1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004913Intermittent lactic acidemia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004901Exercise-induced lactic acidemia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0003128HP:0004902Congenital lactic acidosis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004900Severe lactic acidosis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004925Chronic lactic acidosis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004898Persistent lactic acidosis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004913Intermittent lactic acidemia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004901Exercise-induced lactic acidemia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0003128HP:0004902Congenital lactic acidosis1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004900Severe lactic acidosis1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004925Chronic lactic acidosis1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004898Persistent lactic acidosis1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004913Intermittent lactic acidemia1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004901Exercise-induced lactic acidemia1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0003128HP:0004902Congenital lactic acidosis1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004900Severe lactic acidosis1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004925Chronic lactic acidosis1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004898Persistent lactic acidosis1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004913Intermittent lactic acidemia1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004901Exercise-induced lactic acidemia1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0003128HP:0004902Congenital lactic acidosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004900Severe lactic acidosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004925Chronic lactic acidosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004898Persistent lactic acidosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004913Intermittent lactic acidemia1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004901Exercise-induced lactic acidemia1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0003128HP:0004902Congenital lactic acidosis1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004900Severe lactic acidosis1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004925Chronic lactic acidosis1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004898Persistent lactic acidosis1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004913Intermittent lactic acidemia1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004901Exercise-induced lactic acidemia1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0003128HP:0004900Severe lactic acidosis1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004902Congenital lactic acidosis1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004898Persistent lactic acidosis1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004925Chronic lactic acidosis1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004913Intermittent lactic acidemia1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004901Exercise-induced lactic acidemia1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0003128HP:0004900Severe lactic acidosis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004902Congenital lactic acidosis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004898Persistent lactic acidosis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004925Chronic lactic acidosis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004913Intermittent lactic acidemia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004901Exercise-induced lactic acidemia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0003128HP:0004900Severe lactic acidosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004902Congenital lactic acidosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004925Chronic lactic acidosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004898Persistent lactic acidosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004913Intermittent lactic acidemia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004901Exercise-induced lactic acidemia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0003128HP:0004902Congenital lactic acidosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004900Severe lactic acidosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004925Chronic lactic acidosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004898Persistent lactic acidosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004913Intermittent lactic acidemia1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004901Exercise-induced lactic acidemia1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0003128HP:0004902Congenital lactic acidosis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004900Severe lactic acidosis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004925Chronic lactic acidosis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004898Persistent lactic acidosis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004913Intermittent lactic acidemia1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004901Exercise-induced lactic acidemia1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0003128HP:0004902Congenital lactic acidosis1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004900Severe lactic acidosis1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004925Chronic lactic acidosis1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004898Persistent lactic acidosis1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004913Intermittent lactic acidemia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004901Exercise-induced lactic acidemia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0003128HP:0004902Congenital lactic acidosis1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004900Severe lactic acidosis1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004925Chronic lactic acidosis1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004898Persistent lactic acidosis1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004913Intermittent lactic acidemia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004901Exercise-induced lactic acidemia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0003128HP:0004902Congenital lactic acidosis1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004900Severe lactic acidosis1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004925Chronic lactic acidosis1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004898Persistent lactic acidosis1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004913Intermittent lactic acidemia1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004901Exercise-induced lactic acidemia1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM19821606614738
HP:0003128HP:0004902Congenital lactic acidosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004900Severe lactic acidosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004925Chronic lactic acidosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004898Persistent lactic acidosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004913Intermittent lactic acidemia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004901Exercise-induced lactic acidemia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0003128HP:0004902Congenital lactic acidosis1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004900Severe lactic acidosis1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004925Chronic lactic acidosis1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004898Persistent lactic acidosis1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004913Intermittent lactic acidemia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004901Exercise-induced lactic acidemia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM19614048609204
HP:0003128HP:0004902Congenital lactic acidosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004900Severe lactic acidosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004925Chronic lactic acidosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004898Persistent lactic acidosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004913Intermittent lactic acidemia1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004901Exercise-induced lactic acidemia1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004900Severe lactic acidosis1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003128HP:0004900Severe lactic acidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004900Severe lactic acidosis1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004900Severe lactic acidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003128HP:0004900Severe lactic acidosis1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003128HP:0004900Severe lactic acidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004902Congenital lactic acidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004925Chronic lactic acidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004898Persistent lactic acidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003128HP:0004902Congenital lactic acidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004900Severe lactic acidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004925Chronic lactic acidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004898Persistent lactic acidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004913Intermittent lactic acidemia1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004900Severe lactic acidosis1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004900Severe lactic acidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003128HP:0004900Severe lactic acidosis1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004900Severe lactic acidosis1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004900Severe lactic acidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004900Severe lactic acidosis1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003128HP:0004902Congenital lactic acidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004900Severe lactic acidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004925Chronic lactic acidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004898Persistent lactic acidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004913Intermittent lactic acidemia1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003128HP:0004900Severe lactic acidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004902Congenital lactic acidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004898Persistent lactic acidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004925Chronic lactic acidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003128HP:0004902Congenital lactic acidosis1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004900Severe lactic acidosis1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004925Chronic lactic acidosis1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004898Persistent lactic acidosis1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TF CL E G H4558550ORPHA17481590070
HP:0003128HP:0004902Congenital lactic acidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004900Severe lactic acidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004925Chronic lactic acidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004898Persistent lactic acidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003128HP:0004902Congenital lactic acidosis1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004900Severe lactic acidosis1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004925Chronic lactic acidosis1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004898Persistent lactic acidosis1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TH CL E G H4564550ORPHA17487590040
HP:0003128HP:0004900Severe lactic acidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004902Congenital lactic acidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004925Chronic lactic acidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004898Persistent lactic acidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003128HP:0004900Severe lactic acidosis1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004902Congenital lactic acidosis1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004898Persistent lactic acidosis1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004925Chronic lactic acidosis1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003128HP:0004902Congenital lactic acidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004900Severe lactic acidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004925Chronic lactic acidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004898Persistent lactic acidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003128HP:0004900Severe lactic acidosis1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004902Congenital lactic acidosis1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004898Persistent lactic acidosis1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004925Chronic lactic acidosis1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003128HP:0004902Congenital lactic acidosis1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004900Severe lactic acidosis1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004925Chronic lactic acidosis1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004898Persistent lactic acidosis1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003128HP:0004902Congenital lactic acidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004900Severe lactic acidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004925Chronic lactic acidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004898Persistent lactic acidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003128HP:0004900Severe lactic acidosis1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004902Congenital lactic acidosis1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004925Chronic lactic acidosis1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004898Persistent lactic acidosis1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003128HP:0004902Congenital lactic acidosis1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004900Severe lactic acidosis1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004925Chronic lactic acidosis1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004898Persistent lactic acidosis1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003128HP:0004902Congenital lactic acidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004900Severe lactic acidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004925Chronic lactic acidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004898Persistent lactic acidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003128HP:0004902Congenital lactic acidosis1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004900Severe lactic acidosis1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004925Chronic lactic acidosis1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004898Persistent lactic acidosis1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003128HP:0004902Congenital lactic acidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004900Severe lactic acidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004925Chronic lactic acidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004898Persistent lactic acidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003128HP:0004900Severe lactic acidosis1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004902Congenital lactic acidosis1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004898Persistent lactic acidosis1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004925Chronic lactic acidosis1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TT CL E G H4576551000Lethal infantile mitochondrial myopathy551000C1838876OMIM17499590090
HP:0003128HP:0004900Severe lactic acidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004902Congenital lactic acidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004898Persistent lactic acidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004925Chronic lactic acidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003128HP:0004902Congenital lactic acidosis1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004900Severe lactic acidosis1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004925Chronic lactic acidosis1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004898Persistent lactic acidosis1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TW CL E G H4578550ORPHA17501590095
HP:0003128HP:0004902Congenital lactic acidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004900Severe lactic acidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004925Chronic lactic acidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004898Persistent lactic acidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004913Intermittent lactic acidemia1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004901Exercise-induced lactic acidemia1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003128HP:0004902Congenital lactic acidosis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004900Severe lactic acidosis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004925Chronic lactic acidosis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004898Persistent lactic acidosis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004913Intermittent lactic acidemia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004901Exercise-induced lactic acidemia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0003128HP:0004900Severe lactic acidosis1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004902Congenital lactic acidosis1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004898Persistent lactic acidosis1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004925Chronic lactic acidosis1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004913Intermittent lactic acidemia1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004901Exercise-induced lactic acidemia1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0003128HP:0004902Congenital lactic acidosis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004900Severe lactic acidosis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004925Chronic lactic acidosis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004898Persistent lactic acidosis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004913Intermittent lactic acidemia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004901Exercise-induced lactic acidemia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0003128HP:0004900Severe lactic acidosis1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004902Congenital lactic acidosis1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004898Persistent lactic acidosis1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004925Chronic lactic acidosis1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004913Intermittent lactic acidemia1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004901Exercise-induced lactic acidemia1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM116916287608100
HP:0003128HP:0004902Congenital lactic acidosis1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004900Severe lactic acidosis1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004925Chronic lactic acidosis1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004898Persistent lactic acidosis1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004913Intermittent lactic acidemia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004901Exercise-induced lactic acidemia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0003128HP:0004902Congenital lactic acidosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004900Severe lactic acidosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004925Chronic lactic acidosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004898Persistent lactic acidosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004913Intermittent lactic acidemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004901Exercise-induced lactic acidemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0003128HP:0004902Congenital lactic acidosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004900Severe lactic acidosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004925Chronic lactic acidosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004898Persistent lactic acidosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004913Intermittent lactic acidemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004901Exercise-induced lactic acidemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0003128HP:0004902Congenital lactic acidosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004900Severe lactic acidosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004925Chronic lactic acidosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004898Persistent lactic acidosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004913Intermittent lactic acidemia1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004901Exercise-induced lactic acidemia1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0003128HP:0004902Congenital lactic acidosis1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004900Severe lactic acidosis1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004925Chronic lactic acidosis1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004898Persistent lactic acidosis1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004913Intermittent lactic acidemia1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004901Exercise-induced lactic acidemia1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM12818808179060
HP:0003128HP:0004902Congenital lactic acidosis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004900Severe lactic acidosis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004925Chronic lactic acidosis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004898Persistent lactic acidosis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004913Intermittent lactic acidemia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004901Exercise-induced lactic acidemia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0003128HP:0004902Congenital lactic acidosis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004900Severe lactic acidosis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004925Chronic lactic acidosis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004898Persistent lactic acidosis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004913Intermittent lactic acidemia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004901Exercise-induced lactic acidemia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0003128HP:0004902Congenital lactic acidosis1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004900Severe lactic acidosis1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004925Chronic lactic acidosis1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004898Persistent lactic acidosis1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004913Intermittent lactic acidemia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004901Exercise-induced lactic acidemia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0003128HP:0004902Congenital lactic acidosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004900Severe lactic acidosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004925Chronic lactic acidosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004898Persistent lactic acidosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004913Intermittent lactic acidemia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004901Exercise-induced lactic acidemia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0003128HP:0004900Severe lactic acidosis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004902Congenital lactic acidosis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004925Chronic lactic acidosis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004898Persistent lactic acidosis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004913Intermittent lactic acidemia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004901Exercise-induced lactic acidemia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0003128HP:0004902Congenital lactic acidosis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004900Severe lactic acidosis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004925Chronic lactic acidosis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004898Persistent lactic acidosis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004913Intermittent lactic acidemia1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004901Exercise-induced lactic acidemia1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0003128HP:0004900Severe lactic acidosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004902Congenital lactic acidosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004925Chronic lactic acidosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004898Persistent lactic acidosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004913Intermittent lactic acidemia1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004901Exercise-induced lactic acidemia1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0003128HP:0004902Congenital lactic acidosis1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004900Severe lactic acidosis1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004925Chronic lactic acidosis1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004898Persistent lactic acidosis1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004913Intermittent lactic acidemia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004901Exercise-induced lactic acidemia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0003128HP:0004902Congenital lactic acidosis1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004900Severe lactic acidosis1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004925Chronic lactic acidosis1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004898Persistent lactic acidosis1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004913Intermittent lactic acidemia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004901Exercise-induced lactic acidemia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PREPL CL E G H9581163693ORPHA170830228609557
HP:0003128HP:0004902Congenital lactic acidosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004900Severe lactic acidosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004925Chronic lactic acidosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004898Persistent lactic acidosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004913Intermittent lactic acidemia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004901Exercise-induced lactic acidemia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0003128HP:0004902Congenital lactic acidosis1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004900Severe lactic acidosis1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004925Chronic lactic acidosis1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004898Persistent lactic acidosis1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004913Intermittent lactic acidemia1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004901Exercise-induced lactic acidemia1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM147815508608109
HP:0003128HP:0004902Congenital lactic acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004900Severe lactic acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004898Persistent lactic acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004925Chronic lactic acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004913Intermittent lactic acidemia1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004901Exercise-induced lactic acidemia1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0003128HP:0004902Congenital lactic acidosis1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004900Severe lactic acidosis1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004925Chronic lactic acidosis1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004898Persistent lactic acidosis1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004913Intermittent lactic acidemia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004901Exercise-induced lactic acidemia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM135417296604712
HP:0003128HP:0004902Congenital lactic acidosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004900Severe lactic acidosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004925Chronic lactic acidosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004898Persistent lactic acidosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004913Intermittent lactic acidemia1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004901Exercise-induced lactic acidemia1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0003128HP:0004902Congenital lactic acidosis1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004900Severe lactic acidosis1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004925Chronic lactic acidosis1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004898Persistent lactic acidosis1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004913Intermittent lactic acidemia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004901Exercise-induced lactic acidemia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0003128HP:0004902Congenital lactic acidosis1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004900Severe lactic acidosis1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004925Chronic lactic acidosis1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004898Persistent lactic acidosis1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004913Intermittent lactic acidemia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004901Exercise-induced lactic acidemia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0003128HP:0004902Congenital lactic acidosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004900Severe lactic acidosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004925Chronic lactic acidosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004898Persistent lactic acidosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004913Intermittent lactic acidemia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004901Exercise-induced lactic acidemia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0003128HP:0004902Congenital lactic acidosis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004900Severe lactic acidosis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004925Chronic lactic acidosis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004898Persistent lactic acidosis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004913Intermittent lactic acidemia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004901Exercise-induced lactic acidemia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0003128HP:0004900Severe lactic acidosis1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004902Congenital lactic acidosis1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004898Persistent lactic acidosis1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004925Chronic lactic acidosis1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004913Intermittent lactic acidemia1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004901Exercise-induced lactic acidemia1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004900Severe lactic acidosis1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004900Severe lactic acidosis1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004900Severe lactic acidosis1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004900Severe lactic acidosis1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004900Severe lactic acidosis1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM133310990103220
HP:0003128HP:0004902Congenital lactic acidosis1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004900Severe lactic acidosis1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004925Chronic lactic acidosis1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004898Persistent lactic acidosis1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004913Intermittent lactic acidemia1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0003128HP:0004902Congenital lactic acidosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004900Severe lactic acidosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004925Chronic lactic acidosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004898Persistent lactic acidosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004913Intermittent lactic acidemia1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0003128HP:0004902Congenital lactic acidosis1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004900Severe lactic acidosis1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004925Chronic lactic acidosis1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004898Persistent lactic acidosis1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004913Intermittent lactic acidemia1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0003128HP:0004902Congenital lactic acidosis1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004900Severe lactic acidosis1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004925Chronic lactic acidosis1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004898Persistent lactic acidosis1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004913Intermittent lactic acidemia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004901Exercise-induced lactic acidemia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0003128HP:0004902Congenital lactic acidosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004900Severe lactic acidosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004925Chronic lactic acidosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004898Persistent lactic acidosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004913Intermittent lactic acidemia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004901Exercise-induced lactic acidemia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0003128HP:0004900Severe lactic acidosis1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004902Congenital lactic acidosis1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004925Chronic lactic acidosis1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004898Persistent lactic acidosis1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004913Intermittent lactic acidemia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004901Exercise-induced lactic acidemia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0003128HP:0004900Severe lactic acidosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004902Congenital lactic acidosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004925Chronic lactic acidosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004898Persistent lactic acidosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004913Intermittent lactic acidemia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004901Exercise-induced lactic acidemia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0003128HP:0004902Congenital lactic acidosis1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004900Severe lactic acidosis1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004925Chronic lactic acidosis1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004898Persistent lactic acidosis1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004913Intermittent lactic acidemia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004901Exercise-induced lactic acidemia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0003128HP:0004902Congenital lactic acidosis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004900Severe lactic acidosis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004925Chronic lactic acidosis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004898Persistent lactic acidosis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004913Intermittent lactic acidemia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004901Exercise-induced lactic acidemia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0003128HP:0004902Congenital lactic acidosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004900Severe lactic acidosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004925Chronic lactic acidosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004898Persistent lactic acidosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004913Intermittent lactic acidemia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004901Exercise-induced lactic acidemia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0003128HP:0004900Severe lactic acidosis1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004902Congenital lactic acidosis1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004898Persistent lactic acidosis1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004925Chronic lactic acidosis1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004913Intermittent lactic acidemia1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004901Exercise-induced lactic acidemia1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0003128HP:0004902Congenital lactic acidosis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004900Severe lactic acidosis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004925Chronic lactic acidosis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004898Persistent lactic acidosis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004913Intermittent lactic acidemia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004901Exercise-induced lactic acidemia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0003128HP:0004902Congenital lactic acidosis1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004900Severe lactic acidosis1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004925Chronic lactic acidosis1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004898Persistent lactic acidosis1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004913Intermittent lactic acidemia1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004901Exercise-induced lactic acidemia1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0003128HP:0004902Congenital lactic acidosis1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004900Severe lactic acidosis1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004898Persistent lactic acidosis1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004925Chronic lactic acidosis1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004913Intermittent lactic acidemia1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004901Exercise-induced lactic acidemia1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM162325481610230
HP:0003128HP:0004902Congenital lactic acidosis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004900Severe lactic acidosis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004925Chronic lactic acidosis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004898Persistent lactic acidosis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004913Intermittent lactic acidemia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004901Exercise-induced lactic acidemia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0003128HP:0004902Congenital lactic acidosis1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004900Severe lactic acidosis1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004898Persistent lactic acidosis1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004925Chronic lactic acidosis1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004913Intermittent lactic acidemia1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004901Exercise-induced lactic acidemia1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0003128HP:0004902Congenital lactic acidosis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004900Severe lactic acidosis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004925Chronic lactic acidosis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004898Persistent lactic acidosis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004913Intermittent lactic acidemia1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004901Exercise-induced lactic acidemia1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0003128HP:0004902Congenital lactic acidosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004900Severe lactic acidosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004925Chronic lactic acidosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004898Persistent lactic acidosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004913Intermittent lactic acidemia1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004901Exercise-induced lactic acidemia1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0003128HP:0004902Congenital lactic acidosis1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004900Severe lactic acidosis1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004925Chronic lactic acidosis1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004898Persistent lactic acidosis1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004913Intermittent lactic acidemia1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004901Exercise-induced lactic acidemia1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM13934399616097
HP:0003128HP:0004902Congenital lactic acidosis1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004900Severe lactic acidosis1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004925Chronic lactic acidosis1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004898Persistent lactic acidosis1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004913Intermittent lactic acidemia1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004901Exercise-induced lactic acidemia1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0003128HP:0004900Severe lactic acidosis1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004902Congenital lactic acidosis1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004898Persistent lactic acidosis1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004925Chronic lactic acidosis1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004913Intermittent lactic acidemia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004901Exercise-induced lactic acidemia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0003128HP:0004902Congenital lactic acidosis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004900Severe lactic acidosis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004925Chronic lactic acidosis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004898Persistent lactic acidosis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004913Intermittent lactic acidemia1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004901Exercise-induced lactic acidemia1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003128HP:0003128Lactic acidosis0COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0003128Lactic acidosis0HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0003128Lactic acidosis0TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004902Congenital lactic acidosis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004900Severe lactic acidosis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004925Chronic lactic acidosis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004898Persistent lactic acidosis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004913Intermittent lactic acidemia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004901Exercise-induced lactic acidemia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0003128HP:0004902Congenital lactic acidosis1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004900Severe lactic acidosis1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004925Chronic lactic acidosis1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004898Persistent lactic acidosis1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004913Intermittent lactic acidemia1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004901Exercise-induced lactic acidemia1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1HADH CL E G H303371212ORPHA02294799601609
HP:0003128HP:0004902Congenital lactic acidosis1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004900Severe lactic acidosis1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004925Chronic lactic acidosis1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004898Persistent lactic acidosis1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004913Intermittent lactic acidemia1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004901Exercise-induced lactic acidemia1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM062017341612907


Genes (157) :AARS2 ACAD9 AGK ALDOB APOPT1 ATP5F1D ATP5F1E ATPAF2 BCKDHA BCKDHB BCS1L BOLA3 CA5A CAMKMT COA6 COA7 COA8 COQ2 COQ8A COQ9 COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX8A CYC1 CYTB DBT DGUOK DLAT DLD DNM1L EARS2 ELAC2 ETHE1 FARS2 FASTKD2 FBXL4 FH FOXRED1 G6PC GFER GTPBP3 HADH HADHA HADHB HSD17B10 IBA57 ISCU LARS LARS2 LIAS LIPT1 LRPPRC LYRM4 LYRM7 MIPEP MLYCD MPC1 MPV17 MRPS16 MRPS7 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTO1 NADK2 NAXE ND1 ND4 ND5 ND6 NDUFS4 NFU1 OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PDP1 PET100 PHKG2 PNPLA8 POLG PPM1B PREPL PUS1 RMND1 RRM2B SCO1 SCO2 SDHA SDHAF1 SDHD SERAC1 SFXN4 SLC25A19 SLC25A26 SLC25A3 SLC25A4 SLC37A4 SLC3A1 SUCLA2 SUCLG1 SURF1 TACO1 TANGO2 TAZ TK2 TMEM70 TPK1 TRMT10C TRMU TRNC TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TSFM TUFM TYMP UQCC3 USP18 YARS2

Diseases (112) :614096 99901 611126 1369 229600 618120 614053 604273 248600 53693 256000 124000 614299 615751 163693 616501 220110 436271 607426 139485 612016 614654 550 540000 615453 251880 245348 2394 246900 614388 614924 615440 51188 602473 614946 615471 606812 618241 232200 330054 616198 71212 609015 300438 615330 255125 615438 617021 614462 616299 220111 615595 615838 617228 248360 614741 256810 610498 617872 614702 617186 252010 605711 266150 606054 261680 614111 245349 608782 613027 251950 603041 298 2598 600462 614922 612075 604377 614739 615578 607196 91130 610773 617184 615418 232220 232240 612073 245400 616878 609560 614052 614458 616974 613070 551000 616084 610505 610678 616111 617397 613561 212350 603358 431361 203740 312170 252011 616794 302060 254864 254857
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.