Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of digestive system physiology (HP:0025032)help
Parent Node:
expand
Abnormality of hepatobiliary system physiology (HP:0025155)help
..Starting node
..expand
Decreased liver function (HP:0001410)help
Term ID: 1410
Name: Decreased liver function
Synonym: Decreased liver function; Hepatopathy; Liver dysfunction; Liver dysfunction, mild
Definition: Reduced ability of the liver to perform its functions.
Comments:
Reference: HP:0001410
Genes and Diseases:
 
       Child Nodes:
........expandHepatic failure (HP:0001399) help
................... HP:0006554 Acute hepatic failure
................... HP:0006583 Fatal liver failure in infancy
................... HP:0100626 Chronic hepatic failure

 Sister Nodes: 
..expandDecreased mitochondrial complex III activity in liver tissue (HP:0006558) help
..expandReye syndrome-like episodes (HP:0006582) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001410HP:0001410Decreased liver function0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0001410Decreased liver function0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0001410Decreased liver function0APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0001410Decreased liver function0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0001410Decreased liver function0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0001410Decreased liver function0BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0001410Decreased liver function0CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0001410Decreased liver function0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0001410Decreased liver function0COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0001410Decreased liver function0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0001410Decreased liver function0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0001410Decreased liver function0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0001410Decreased liver function0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0001410Decreased liver function0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0001410Decreased liver function0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0001410Decreased liver function0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0001410Decreased liver function0FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0001410Decreased liver function0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0001410Decreased liver function0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0001410Decreased liver function0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0001410Decreased liver function0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0001410Decreased liver function0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0001410Decreased liver function0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0001410Decreased liver function0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0001410Decreased liver function0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0001410Decreased liver function0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0001410Decreased liver function0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0001410Decreased liver function0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0001410Decreased liver function0PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0001410Decreased liver function0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0001410Decreased liver function0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0001410Decreased liver function0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0001410Decreased liver function0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0001410Decreased liver function0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0001410Decreased liver function0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0001410Decreased liver function0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0001410Decreased liver function0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0001410Decreased liver function0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0001410Decreased liver function0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0001410Decreased liver function0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0001410Decreased liver function0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0001410Decreased liver function0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0001410Decreased liver function0TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0001410Decreased liver function0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0001410Decreased liver function0UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0001410Decreased liver function0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0001399Hepatic failure1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0001399Hepatic failure1ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0001399Hepatic failure1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0001399Hepatic failure1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0001399Hepatic failure1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0001399Hepatic failure1BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0001399Hepatic failure1CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0001399Hepatic failure1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0001399Hepatic failure1COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0001399Hepatic failure1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0001399Hepatic failure1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0001399Hepatic failure1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0001399Hepatic failure1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0001399Hepatic failure1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0001399Hepatic failure1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0001399Hepatic failure1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0001399Hepatic failure1FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0001399Hepatic failure1FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0001399Hepatic failure1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0001399Hepatic failure1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0001399Hepatic failure1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0001399Hepatic failure1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0001399Hepatic failure1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0001399Hepatic failure1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0001399Hepatic failure1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0001399Hepatic failure1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0001399Hepatic failure1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0001399Hepatic failure1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0001399Hepatic failure1PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0001399Hepatic failure1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0001399Hepatic failure1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0001399Hepatic failure1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0001399Hepatic failure1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0001399Hepatic failure1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0001399Hepatic failure1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0001399Hepatic failure1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0001399Hepatic failure1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0001399Hepatic failure1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0001399Hepatic failure1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0001399Hepatic failure1STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0001399Hepatic failure1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0001399Hepatic failure1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0001399Hepatic failure1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0001399Hepatic failure1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0001399Hepatic failure1UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0001399Hepatic failure1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0006583Fatal liver failure in infancy2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0006554Acute hepatic failure2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0100626Chronic hepatic failure2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0006583Fatal liver failure in infancy2ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0006554Acute hepatic failure2ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0100626Chronic hepatic failure2ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0006554Acute hepatic failure2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0006583Fatal liver failure in infancy2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0100626Chronic hepatic failure2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0006583Fatal liver failure in infancy2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0006554Acute hepatic failure2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0100626Chronic hepatic failure2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0006554Acute hepatic failure2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0006583Fatal liver failure in infancy2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0100626Chronic hepatic failure2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0006554Acute hepatic failure2BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0006583Fatal liver failure in infancy2BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0100626Chronic hepatic failure2BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0006583Fatal liver failure in infancy2CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0006554Acute hepatic failure2CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0100626Chronic hepatic failure2CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0006554Acute hepatic failure2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0006583Fatal liver failure in infancy2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0100626Chronic hepatic failure2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0006554Acute hepatic failure2COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0006583Fatal liver failure in infancy2COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0100626Chronic hepatic failure2COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0006554Acute hepatic failure2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0006583Fatal liver failure in infancy2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0100626Chronic hepatic failure2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0100626Chronic hepatic failure2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0006554Acute hepatic failure2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0006583Fatal liver failure in infancy2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0006554Acute hepatic failure2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0006583Fatal liver failure in infancy2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0100626Chronic hepatic failure2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0006583Fatal liver failure in infancy2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0006554Acute hepatic failure2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0100626Chronic hepatic failure2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0006554Acute hepatic failure2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0006583Fatal liver failure in infancy2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0100626Chronic hepatic failure2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0100626Chronic hepatic failure2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0006554Acute hepatic failure2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0006583Fatal liver failure in infancy2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0100626Chronic hepatic failure2DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0006554Acute hepatic failure2DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0006583Fatal liver failure in infancy2DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0100626Chronic hepatic failure2FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0006554Acute hepatic failure2FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0006583Fatal liver failure in infancy2FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0006554Acute hepatic failure2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0006583Fatal liver failure in infancy2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0100626Chronic hepatic failure2FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0006554Acute hepatic failure2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0006583Fatal liver failure in infancy2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0100626Chronic hepatic failure2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0006554Acute hepatic failure2GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0006583Fatal liver failure in infancy2GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0100626Chronic hepatic failure2GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0006583Fatal liver failure in infancy2LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0006554Acute hepatic failure2LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0100626Chronic hepatic failure2LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0100626Chronic hepatic failure2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0006554Acute hepatic failure2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0006583Fatal liver failure in infancy2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0006583Fatal liver failure in infancy2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0006554Acute hepatic failure2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0100626Chronic hepatic failure2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0006554Acute hepatic failure2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0006583Fatal liver failure in infancy2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0100626Chronic hepatic failure2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0006583Fatal liver failure in infancy2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0006554Acute hepatic failure2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0100626Chronic hepatic failure2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0006583Fatal liver failure in infancy2MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0006554Acute hepatic failure2MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0100626Chronic hepatic failure2MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0006554Acute hepatic failure2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0006583Fatal liver failure in infancy2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0100626Chronic hepatic failure2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0006554Acute hepatic failure2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0006583Fatal liver failure in infancy2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0100626Chronic hepatic failure2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0006554Acute hepatic failure2PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0006583Fatal liver failure in infancy2PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0100626Chronic hepatic failure2PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0100626Chronic hepatic failure2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0006554Acute hepatic failure2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0006583Fatal liver failure in infancy2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0006583Fatal liver failure in infancy2PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0006554Acute hepatic failure2PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0100626Chronic hepatic failure2PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0006554Acute hepatic failure2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0006583Fatal liver failure in infancy2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0100626Chronic hepatic failure2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0006583Fatal liver failure in infancy2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0006554Acute hepatic failure2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0100626Chronic hepatic failure2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0006554Acute hepatic failure2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0006583Fatal liver failure in infancy2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0100626Chronic hepatic failure2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0006554Acute hepatic failure2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0006583Fatal liver failure in infancy2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0100626Chronic hepatic failure2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0100626Chronic hepatic failure2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0006554Acute hepatic failure2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0006583Fatal liver failure in infancy2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0006583Fatal liver failure in infancy2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0006554Acute hepatic failure2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0100626Chronic hepatic failure2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0100626Chronic hepatic failure2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0006554Acute hepatic failure2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0006583Fatal liver failure in infancy2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0100626Chronic hepatic failure2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0006554Acute hepatic failure2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0006583Fatal liver failure in infancy2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0006554Acute hepatic failure2STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0006583Fatal liver failure in infancy2STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0100626Chronic hepatic failure2STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0100626Chronic hepatic failure2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0006554Acute hepatic failure2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0006583Fatal liver failure in infancy2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0006554Acute hepatic failure2TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0006583Fatal liver failure in infancy2TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0100626Chronic hepatic failure2TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0006554Acute hepatic failure2TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0006583Fatal liver failure in infancy2TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0100626Chronic hepatic failure2TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0006554Acute hepatic failure2TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0006583Fatal liver failure in infancy2TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0100626Chronic hepatic failure2TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0006554Acute hepatic failure2UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0006583Fatal liver failure in infancy2UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0100626Chronic hepatic failure2UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0006554Acute hepatic failure2USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0006583Fatal liver failure in infancy2USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0100626Chronic hepatic failure2USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0004448Fulminant hepatic failure3ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0004448Fulminant hepatic failure3ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0004448Fulminant hepatic failure3APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0004448Fulminant hepatic failure3APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0004448Fulminant hepatic failure3BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0004448Fulminant hepatic failure3BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0004448Fulminant hepatic failure3CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0004448Fulminant hepatic failure3COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0004448Fulminant hepatic failure3COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0004448Fulminant hepatic failure3COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0004448Fulminant hepatic failure3COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0004448Fulminant hepatic failure3COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0004448Fulminant hepatic failure3COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0004448Fulminant hepatic failure3COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0004448Fulminant hepatic failure3COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0004448Fulminant hepatic failure3DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0004448Fulminant hepatic failure3FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0004448Fulminant hepatic failure3FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0004448Fulminant hepatic failure3FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0004448Fulminant hepatic failure3GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0004448Fulminant hepatic failure3LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0004448Fulminant hepatic failure3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0004448Fulminant hepatic failure3MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0004448Fulminant hepatic failure3MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0004448Fulminant hepatic failure3MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0004448Fulminant hepatic failure3MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0004448Fulminant hepatic failure3OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0004448Fulminant hepatic failure3PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0004448Fulminant hepatic failure3PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0004448Fulminant hepatic failure3PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0004448Fulminant hepatic failure3PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0004448Fulminant hepatic failure3PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0004448Fulminant hepatic failure3PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0004448Fulminant hepatic failure3PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0004448Fulminant hepatic failure3PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0004448Fulminant hepatic failure3RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0004448Fulminant hepatic failure3SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0004448Fulminant hepatic failure3SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0004448Fulminant hepatic failure3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0004448Fulminant hepatic failure3STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0004448Fulminant hepatic failure3TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0004448Fulminant hepatic failure3TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0004448Fulminant hepatic failure3TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0004448Fulminant hepatic failure3TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0004448Fulminant hepatic failure3UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0004448Fulminant hepatic failure3USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
HP:0001410HP:0004787Fulminant hepatitis4ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001410HP:0004787Fulminant hepatitis4ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM128623161608103
HP:0001410HP:0004787Fulminant hepatitis4APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001410HP:0004787Fulminant hepatitis4APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001410HP:0004787Fulminant hepatitis4BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001410HP:0004787Fulminant hepatitis4BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1571062109750
HP:0001410HP:0004787Fulminant hepatitis4CCDC47 CL E G H57003618268618268618268OMIM145248560
HP:0001410HP:0004787Fulminant hepatitis4COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001410HP:0004787Fulminant hepatitis4COG2 CL E G H22796435934ORPHA12286546606974
HP:0001410HP:0004787Fulminant hepatitis4COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM145618622606978
HP:0001410HP:0004787Fulminant hepatitis4COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001410HP:0004787Fulminant hepatitis4COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001410HP:0004787Fulminant hepatitis4COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001410HP:0004787Fulminant hepatitis4COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001410HP:0004787Fulminant hepatitis4COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001410HP:0004787Fulminant hepatitis4DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM12532728602202
HP:0001410HP:0004787Fulminant hepatitis4FADD CL E G H8772306550ORPHA11103573602457
HP:0001410HP:0004787Fulminant hepatitis4FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11103573602457
HP:0001410HP:0004787Fulminant hepatitis4FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001410HP:0004787Fulminant hepatitis4GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM17194135606999
HP:0001410HP:0004787Fulminant hepatitis4LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM141617095604544
HP:0001410HP:0004787Fulminant hepatitis4LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001410HP:0004787Fulminant hepatitis4MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001410HP:0004787Fulminant hepatitis4MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001410HP:0004787Fulminant hepatitis4MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001410HP:0004787Fulminant hepatitis4MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0001410HP:0004787Fulminant hepatitis4OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001410HP:0004787Fulminant hepatitis4PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001410HP:0004787Fulminant hepatitis4PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM18038851602859
HP:0001410HP:0004787Fulminant hepatitis4PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001410HP:0004787Fulminant hepatitis4PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0001410HP:0004787Fulminant hepatitis4PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001410HP:0004787Fulminant hepatitis4PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001410HP:0004787Fulminant hepatitis4PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM152222965608666
HP:0001410HP:0004787Fulminant hepatitis4PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM114588859601498
HP:0001410HP:0004787Fulminant hepatitis4RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001410HP:0004787Fulminant hepatitis4SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001410HP:0004787Fulminant hepatitis4SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0001410HP:0004787Fulminant hepatitis4SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001410HP:0004787Fulminant hepatitis4STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM115830611608605
HP:0001410HP:0004787Fulminant hepatitis4TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001410HP:0004787Fulminant hepatitis4TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001410HP:0004787Fulminant hepatitis4TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM18218085616815
HP:0001410HP:0004787Fulminant hepatitis4TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM15426022615423
HP:0001410HP:0004787Fulminant hepatitis4UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM123512586191329
HP:0001410HP:0004787Fulminant hepatitis4USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM116512616607057
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001410HP:0001410Decreased liver function0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0001410Decreased liver function0FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0001410Decreased liver function0GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0001410Decreased liver function0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0001410Decreased liver function0RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0001399Hepatic failure1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0001399Hepatic failure1FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0001399Hepatic failure1GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0001399Hepatic failure1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0001399Hepatic failure1RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0006554Acute hepatic failure2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0006583Fatal liver failure in infancy2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0100626Chronic hepatic failure2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0006554Acute hepatic failure2FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0006583Fatal liver failure in infancy2FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0100626Chronic hepatic failure2FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0100626Chronic hepatic failure2GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0006554Acute hepatic failure2GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0006583Fatal liver failure in infancy2GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0100626Chronic hepatic failure2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0006554Acute hepatic failure2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0006583Fatal liver failure in infancy2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0006583Fatal liver failure in infancy2RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0006554Acute hepatic failure2RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0100626Chronic hepatic failure2RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0004448Fulminant hepatic failure3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0004448Fulminant hepatic failure3FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0004448Fulminant hepatic failure3GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0004448Fulminant hepatic failure3IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0004448Fulminant hepatic failure3RNU12 CL E G H267010512260ORPHA017193800
HP:0001410HP:0004787Fulminant hepatitis4DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM05202898238331
HP:0001410HP:0004787Fulminant hepatitis4FECH CL E G H223579278ORPHA03563647612386
HP:0001410HP:0004787Fulminant hepatitis4GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM02774138104160
HP:0001410HP:0004787Fulminant hepatitis4IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001410HP:0004787Fulminant hepatitis4RNU12 CL E G H267010512260ORPHA017193800


Genes (170) :ABCD3 ACAD9 ACVRL1 ADK AGPAT2 AKR1D1 ALG1 ALG6 ALG8 ALG9 ALMS1 AMACR APOPT1 ATP7B ATRX BCS1L BLVRA BSCL2 BTNL2 CACNA1S CAV1 CAVIN1 CC2D2A CCDC115 CCDC47 CEP164 COA7 COA8 COG2 COG4 COG7 COQ2 COX10 COX14 COX20 COX6B1 COX8A CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DDOST DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F5 FADD FAH FASTKD2 FECH FH FOS GALT GANAB GBA GBE1 GDF2 GFM1 GPR35 HADH HADHA HADHB HLA-B HLA-DRB1 HSD3B7 IARS IFT122 IFT172 IKZF1 IL12A IL12RB1 IL21R INPP5E IRF5 JAG1 JAK2 LARS LARS2 LIPA LIPT1 MARS MEFV MMEL1 MOGS MPI MPV17 MRPS7 MST1 MT-TN MT-TS1 MTM1 NBAS NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NR1H4 OCLN OSTM1 OTC PARN PCK1 PCK2 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POLG PORCN POU2AF1 PPARG PTPN22 RMND1 RNU12 RPGRIP1L RTEL1 RYR1 SC5D SCO1 SCYL1 SERPINA1 SH2D1A SLC25A15 SLC25A20 SLC30A10 SMAD4 SP110 SPIB STT3B TACO1 TALDO1 TCF4 TERC TERT TFAM TINF2 TJP2 TMEM199 TMEM67 TNFSF15 TNPO3 TRMT10C TRMU TRNN TRNS1 TRNT TTC37 UBR1 UQCRC2 USB1 USP18 VPS13A WRAP53 XIAP

Diseases (130) :614300 608104 124000 614156 618268 220110 436271 435934 608779 614507 246900 306550 613759 79278 230400 600666 617093 617021 616299 615486 310400 251290 614870 614871 614883 614877 614867 614873 614863 614922 512260 238970 613280 615597 606003 616829 616974 615160 617397 616278 611126 774 528 235555 79327 79320 79325 79328 214950 277900 100075 797 616828 614845 613489 607426 156 228308 228305 1775 79302 613812 251880 2394 254780 177000 606812 79239 608013 232500 607765 218330 615630 186 615207 118450 75233 75234 79330 79319 602579 617872 252010 617049 259720 664 261680 261650 912 614886 203700 397 46059 616719 60 159 617156 615878 222470 243800 99901 79303 64 905 423 1454 263501 615453 1667 131 882 276700 171 71212 746 36426 615438 342 256810 616483 257220 2092 466794 79124 613070 254857 2388 609060 231530 308240
 

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