Human Phenotype Ontology 
Grandparent Node:
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Abnormality of hepatobiliary system physiology (HP:0025155)help
Parent Node:
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Decreased liver function (HP:0001410)help
..Starting node
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Hepatic failure (HP:0001399)help
Term ID: 1399
Name: Hepatic failure
Synonym: Liver failure
Definition:
Comments:
Reference: HP:0001399
Genes and Diseases:
 
       Child Nodes:
........expandAcute hepatic failure (HP:0006554) help
................... HP:0004448 Fulminant hepatic failure
........expandFatal liver failure in infancy (HP:0006583) help
........expandChronic hepatic failure (HP:0100626) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001399HP:0001399Hepatic failure0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172867170995
HP:0001399HP:0001399Hepatic failure0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001399HP:0001399Hepatic failure0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143201325603100
HP:0001399HP:0001399Hepatic failure0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115201388604741
HP:0001399HP:0001399Hepatic failure0ALG1 CL E G H5605279327ORPHA14425118294605907
HP:0001399HP:0001399Hepatic failure0ALG6 CL E G H2992979320ORPHA12630623157604566
HP:0001399HP:0001399Hepatic failure0ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0001399HP:0001399Hepatic failure0ALG9 CL E G H7979679328ORPHA1420615672606941
HP:0001399HP:0001399Hepatic failure0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114160451604489
HP:0001399HP:0001399Hepatic failure0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001399HP:0001399Hepatic failure0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15032115832606158
HP:0001399HP:0001399Hepatic failure0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113801527601047
HP:0001399HP:0001399Hepatic failure0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA1151089688603198
HP:0001399HP:0001399Hepatic failure0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001399HP:0001399Hepatic failure0CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001399HP:0001399Hepatic failure0CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001399HP:0001399Hepatic failure0CYP7B1 CL E G H942079302ORPHA1632362652603711
HP:0001399HP:0001399Hepatic failure0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1632362652603711
HP:0001399HP:0001399Hepatic failure0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641342858601465
HP:0001399HP:0001399Hepatic failure0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0001399HP:0001399Hepatic failure0FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM11952533647612386
HP:0001399HP:0001399Hepatic failure0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM121611003700136850
HP:0001399HP:0001399Hepatic failure0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12293796164810
HP:0001399HP:0001399Hepatic failure0GALT CL E G H259279239ORPHA13376494135606999
HP:0001399HP:0001399Hepatic failure0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942454177606463
HP:0001399HP:0001399Hepatic failure0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001399HP:0001399Hepatic failure0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM12610218324607764
HP:0001399HP:0001399Hepatic failure0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12331113556606045
HP:0001399HP:0001399Hepatic failure0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12757130391607386
HP:0001399HP:0001399Hepatic failure0IL12A CL E G H3592186ORPHA12275969161560
HP:0001399HP:0001399Hepatic failure0IL12RB1 CL E G H3594186ORPHA1882695971601604
HP:0001399HP:0001399Hepatic failure0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1102146006605383
HP:0001399HP:0001399Hepatic failure0IRF5 CL E G H3663186ORPHA110396120607218
HP:0001399HP:0001399Hepatic failure0LIPA CL E G H398875233ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure0MMEL1 CL E G H79258186ORPHA1113514668618104
HP:0001399HP:0001399Hepatic failure0MOGS CL E G H784179330ORPHA1823724862601336
HP:0001399HP:0001399Hepatic failure0MPI CL E G H435179319ORPHA1212517216154550
HP:0001399HP:0001399Hepatic failure0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1212517216154550
HP:0001399HP:0001399Hepatic failure0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM115514499611974
HP:0001399HP:0001399Hepatic failure0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001399HP:0001399Hepatic failure0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0001399HP:0001399Hepatic failure0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18817967603826
HP:0001399HP:0001399Hepatic failure0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0001399HP:0001399Hepatic failure0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15277398512300461
HP:0001399HP:0001399Hepatic failure0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101348724614168
HP:0001399HP:0001399Hepatic failure0PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12638725614095
HP:0001399HP:0001399Hepatic failure0PEX1 CL E G H5189912ORPHA11407828850602136
HP:0001399HP:0001399Hepatic failure0PEX10 CL E G H5192912ORPHA1324758851602859
HP:0001399HP:0001399Hepatic failure0PEX11B CL E G H8799912ORPHA182818853603867
HP:0001399HP:0001399Hepatic failure0PEX12 CL E G H5193912ORPHA1372408854601758
HP:0001399HP:0001399Hepatic failure0PEX13 CL E G H5194912ORPHA1102328855601789
HP:0001399HP:0001399Hepatic failure0PEX14 CL E G H5195912ORPHA152348856601791
HP:0001399HP:0001399Hepatic failure0PEX16 CL E G H9409912ORPHA1152038857603360
HP:0001399HP:0001399Hepatic failure0PEX19 CL E G H5824912ORPHA141799713600279
HP:0001399HP:0001399Hepatic failure0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141799713600279
HP:0001399HP:0001399Hepatic failure0PEX2 CL E G H5828912ORPHA1182519717170993
HP:0001399HP:0001399Hepatic failure0PEX26 CL E G H55670912ORPHA12731322965608666
HP:0001399HP:0001399Hepatic failure0PEX3 CL E G H8504912ORPHA1101558858603164
HP:0001399HP:0001399Hepatic failure0PEX5 CL E G H5830912ORPHA1144039719600414
HP:0001399HP:0001399Hepatic failure0PEX6 CL E G H5190912ORPHA11096398859601498
HP:0001399HP:0001399Hepatic failure0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0001399HP:0001399Hepatic failure0POU2AF1 CL E G H5450186ORPHA11229211601206
HP:0001399HP:0001399Hepatic failure0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA1541059236601487
HP:0001399HP:0001399Hepatic failure0SC5D CL E G H630946059ORPHA1618810547602286
HP:0001399HP:0001399Hepatic failure0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1116714372607982
HP:0001399HP:0001399Hepatic failure0SERPINA1 CL E G H526560ORPHA11083248941107400
HP:0001399HP:0001399Hepatic failure0SPIB CL E G H6689186ORPHA112411242606802
HP:0001399HP:0001399Hepatic failure0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM144011741600438
HP:0001399HP:0001399Hepatic failure0TJP2 CL E G H9414615878Progressive familial intrahepatic cholestasis 4615878C2931067OMIM12745311828607709
HP:0001399HP:0001399Hepatic failure0TNFSF15 CL E G H9966186ORPHA123611931604052
HP:0001399HP:0001399Hepatic failure0TNPO3 CL E G H23534186ORPHA1531317103610032
HP:0001399HP:0001399Hepatic failure0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16419323639614589
HP:0001399HP:0001399Hepatic failure1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172867170995
HP:0001399HP:0001399Hepatic failure1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001399HP:0001399Hepatic failure1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143201325603100
HP:0001399HP:0001399Hepatic failure1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115201388604741
HP:0001399HP:0001399Hepatic failure1ALG1 CL E G H5605279327ORPHA14425118294605907
HP:0001399HP:0001399Hepatic failure1ALG6 CL E G H2992979320ORPHA12630623157604566
HP:0001399HP:0001399Hepatic failure1ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0001399HP:0001399Hepatic failure1ALG9 CL E G H7979679328ORPHA1420615672606941
HP:0001399HP:0001399Hepatic failure1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114160451604489
HP:0001399HP:0001399Hepatic failure1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001399HP:0001399Hepatic failure1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15032115832606158
HP:0001399HP:0001399Hepatic failure1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113801527601047
HP:0001399HP:0001399Hepatic failure1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA1151089688603198
HP:0001399HP:0001399Hepatic failure1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001399HP:0001399Hepatic failure1CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001399HP:0001399Hepatic failure1CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001399HP:0001399Hepatic failure1CYP7B1 CL E G H942079302ORPHA1632362652603711
HP:0001399HP:0001399Hepatic failure1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1632362652603711
HP:0001399HP:0001399Hepatic failure1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641342858601465
HP:0001399HP:0001399Hepatic failure1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0001399HP:0001399Hepatic failure1FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM11952533647612386
HP:0001399HP:0001399Hepatic failure1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM121611003700136850
HP:0001399HP:0001399Hepatic failure1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12293796164810
HP:0001399HP:0001399Hepatic failure1GALT CL E G H259279239ORPHA13376494135606999
HP:0001399HP:0001399Hepatic failure1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942454177606463
HP:0001399HP:0001399Hepatic failure1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001399HP:0001399Hepatic failure1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM12610218324607764
HP:0001399HP:0001399Hepatic failure1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12331113556606045
HP:0001399HP:0001399Hepatic failure1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12757130391607386
HP:0001399HP:0001399Hepatic failure1IL12A CL E G H3592186ORPHA12275969161560
HP:0001399HP:0001399Hepatic failure1IL12RB1 CL E G H3594186ORPHA1882695971601604
HP:0001399HP:0001399Hepatic failure1IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1102146006605383
HP:0001399HP:0001399Hepatic failure1IRF5 CL E G H3663186ORPHA110396120607218
HP:0001399HP:0001399Hepatic failure1LIPA CL E G H398875233ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure1MMEL1 CL E G H79258186ORPHA1113514668618104
HP:0001399HP:0001399Hepatic failure1MOGS CL E G H784179330ORPHA1823724862601336
HP:0001399HP:0001399Hepatic failure1MPI CL E G H435179319ORPHA1212517216154550
HP:0001399HP:0001399Hepatic failure1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1212517216154550
HP:0001399HP:0001399Hepatic failure1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM115514499611974
HP:0001399HP:0001399Hepatic failure1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001399HP:0001399Hepatic failure1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0001399HP:0001399Hepatic failure1NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18817967603826
HP:0001399HP:0001399Hepatic failure1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0001399HP:0001399Hepatic failure1OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15277398512300461
HP:0001399HP:0001399Hepatic failure1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101348724614168
HP:0001399HP:0001399Hepatic failure1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12638725614095
HP:0001399HP:0001399Hepatic failure1PEX1 CL E G H5189912ORPHA11407828850602136
HP:0001399HP:0001399Hepatic failure1PEX10 CL E G H5192912ORPHA1324758851602859
HP:0001399HP:0001399Hepatic failure1PEX11B CL E G H8799912ORPHA182818853603867
HP:0001399HP:0001399Hepatic failure1PEX12 CL E G H5193912ORPHA1372408854601758
HP:0001399HP:0001399Hepatic failure1PEX13 CL E G H5194912ORPHA1102328855601789
HP:0001399HP:0001399Hepatic failure1PEX14 CL E G H5195912ORPHA152348856601791
HP:0001399HP:0001399Hepatic failure1PEX16 CL E G H9409912ORPHA1152038857603360
HP:0001399HP:0001399Hepatic failure1PEX19 CL E G H5824912ORPHA141799713600279
HP:0001399HP:0001399Hepatic failure1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141799713600279
HP:0001399HP:0001399Hepatic failure1PEX2 CL E G H5828912ORPHA1182519717170993
HP:0001399HP:0001399Hepatic failure1PEX26 CL E G H55670912ORPHA12731322965608666
HP:0001399HP:0001399Hepatic failure1PEX3 CL E G H8504912ORPHA1101558858603164
HP:0001399HP:0001399Hepatic failure1PEX5 CL E G H5830912ORPHA1144039719600414
HP:0001399HP:0001399Hepatic failure1PEX6 CL E G H5190912ORPHA11096398859601498
HP:0001399HP:0001399Hepatic failure1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0001399HP:0001399Hepatic failure1POU2AF1 CL E G H5450186ORPHA11229211601206
HP:0001399HP:0001399Hepatic failure1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA1541059236601487
HP:0001399HP:0001399Hepatic failure1SC5D CL E G H630946059ORPHA1618810547602286
HP:0001399HP:0001399Hepatic failure1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1116714372607982
HP:0001399HP:0001399Hepatic failure1SERPINA1 CL E G H526560ORPHA11083248941107400
HP:0001399HP:0001399Hepatic failure1SPIB CL E G H6689186ORPHA112411242606802
HP:0001399HP:0001399Hepatic failure1TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM144011741600438
HP:0001399HP:0001399Hepatic failure1TJP2 CL E G H9414615878Progressive familial intrahepatic cholestasis 4615878C2931067OMIM12745311828607709
HP:0001399HP:0001399Hepatic failure1TNFSF15 CL E G H9966186ORPHA123611931604052
HP:0001399HP:0001399Hepatic failure1TNPO3 CL E G H23534186ORPHA1531317103610032
HP:0001399HP:0001399Hepatic failure1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16419323639614589
HP:0001399HP:0001399Hepatic failure2ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172867170995
HP:0001399HP:0001399Hepatic failure2ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001399HP:0001399Hepatic failure2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143201325603100
HP:0001399HP:0001399Hepatic failure2AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115201388604741
HP:0001399HP:0001399Hepatic failure2ALG1 CL E G H5605279327ORPHA14425118294605907
HP:0001399HP:0001399Hepatic failure2ALG6 CL E G H2992979320ORPHA12630623157604566
HP:0001399HP:0001399Hepatic failure2ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0001399HP:0001399Hepatic failure2ALG9 CL E G H7979679328ORPHA1420615672606941
HP:0001399HP:0001399Hepatic failure2AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114160451604489
HP:0001399HP:0001399Hepatic failure2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001399HP:0001399Hepatic failure2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15032115832606158
HP:0001399HP:0001399Hepatic failure2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113801527601047
HP:0001399HP:0001399Hepatic failure2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA1151089688603198
HP:0001399HP:0001399Hepatic failure2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001399HP:0001399Hepatic failure2CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001399HP:0001399Hepatic failure2CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001399HP:0001399Hepatic failure2CYP7B1 CL E G H942079302ORPHA1632362652603711
HP:0001399HP:0001399Hepatic failure2CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1632362652603711
HP:0001399HP:0001399Hepatic failure2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641342858601465
HP:0001399HP:0001399Hepatic failure2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0001399HP:0001399Hepatic failure2FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM11952533647612386
HP:0001399HP:0001399Hepatic failure2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM121611003700136850
HP:0001399HP:0001399Hepatic failure2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12293796164810
HP:0001399HP:0001399Hepatic failure2GALT CL E G H259279239ORPHA13376494135606999
HP:0001399HP:0001399Hepatic failure2GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942454177606463
HP:0001399HP:0001399Hepatic failure2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001399HP:0001399Hepatic failure2HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM12610218324607764
HP:0001399HP:0001399Hepatic failure2IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12331113556606045
HP:0001399HP:0001399Hepatic failure2IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12757130391607386
HP:0001399HP:0001399Hepatic failure2IL12A CL E G H3592186ORPHA12275969161560
HP:0001399HP:0001399Hepatic failure2IL12RB1 CL E G H3594186ORPHA1882695971601604
HP:0001399HP:0001399Hepatic failure2IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1102146006605383
HP:0001399HP:0001399Hepatic failure2IRF5 CL E G H3663186ORPHA110396120607218
HP:0001399HP:0001399Hepatic failure2LIPA CL E G H398875233ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure2LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure2MMEL1 CL E G H79258186ORPHA1113514668618104
HP:0001399HP:0001399Hepatic failure2MOGS CL E G H784179330ORPHA1823724862601336
HP:0001399HP:0001399Hepatic failure2MPI CL E G H435179319ORPHA1212517216154550
HP:0001399HP:0001399Hepatic failure2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1212517216154550
HP:0001399HP:0001399Hepatic failure2MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM115514499611974
HP:0001399HP:0001399Hepatic failure2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001399HP:0001399Hepatic failure2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0001399HP:0001399Hepatic failure2NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18817967603826
HP:0001399HP:0001399Hepatic failure2OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0001399HP:0001399Hepatic failure2OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15277398512300461
HP:0001399HP:0001399Hepatic failure2PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101348724614168
HP:0001399HP:0001399Hepatic failure2PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12638725614095
HP:0001399HP:0001399Hepatic failure2PEX1 CL E G H5189912ORPHA11407828850602136
HP:0001399HP:0001399Hepatic failure2PEX10 CL E G H5192912ORPHA1324758851602859
HP:0001399HP:0001399Hepatic failure2PEX11B CL E G H8799912ORPHA182818853603867
HP:0001399HP:0001399Hepatic failure2PEX12 CL E G H5193912ORPHA1372408854601758
HP:0001399HP:0001399Hepatic failure2PEX13 CL E G H5194912ORPHA1102328855601789
HP:0001399HP:0001399Hepatic failure2PEX14 CL E G H5195912ORPHA152348856601791
HP:0001399HP:0001399Hepatic failure2PEX16 CL E G H9409912ORPHA1152038857603360
HP:0001399HP:0001399Hepatic failure2PEX19 CL E G H5824912ORPHA141799713600279
HP:0001399HP:0001399Hepatic failure2PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141799713600279
HP:0001399HP:0001399Hepatic failure2PEX2 CL E G H5828912ORPHA1182519717170993
HP:0001399HP:0001399Hepatic failure2PEX26 CL E G H55670912ORPHA12731322965608666
HP:0001399HP:0001399Hepatic failure2PEX3 CL E G H8504912ORPHA1101558858603164
HP:0001399HP:0001399Hepatic failure2PEX5 CL E G H5830912ORPHA1144039719600414
HP:0001399HP:0001399Hepatic failure2PEX6 CL E G H5190912ORPHA11096398859601498
HP:0001399HP:0001399Hepatic failure2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0001399HP:0001399Hepatic failure2POU2AF1 CL E G H5450186ORPHA11229211601206
HP:0001399HP:0001399Hepatic failure2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA1541059236601487
HP:0001399HP:0001399Hepatic failure2SC5D CL E G H630946059ORPHA1618810547602286
HP:0001399HP:0001399Hepatic failure2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1116714372607982
HP:0001399HP:0001399Hepatic failure2SERPINA1 CL E G H526560ORPHA11083248941107400
HP:0001399HP:0001399Hepatic failure2SPIB CL E G H6689186ORPHA112411242606802
HP:0001399HP:0001399Hepatic failure2TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM144011741600438
HP:0001399HP:0001399Hepatic failure2TJP2 CL E G H9414615878Progressive familial intrahepatic cholestasis 4615878C2931067OMIM12745311828607709
HP:0001399HP:0001399Hepatic failure2TNFSF15 CL E G H9966186ORPHA123611931604052
HP:0001399HP:0001399Hepatic failure2TNPO3 CL E G H23534186ORPHA1531317103610032
HP:0001399HP:0001399Hepatic failure2TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16419323639614589
HP:0001399HP:0001399Hepatic failure3ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172867170995
HP:0001399HP:0001399Hepatic failure3ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001399HP:0001399Hepatic failure3AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143201325603100
HP:0001399HP:0001399Hepatic failure3AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115201388604741
HP:0001399HP:0001399Hepatic failure3ALG1 CL E G H5605279327ORPHA14425118294605907
HP:0001399HP:0001399Hepatic failure3ALG6 CL E G H2992979320ORPHA12630623157604566
HP:0001399HP:0001399Hepatic failure3ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0001399HP:0001399Hepatic failure3ALG9 CL E G H7979679328ORPHA1420615672606941
HP:0001399HP:0001399Hepatic failure3AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114160451604489
HP:0001399HP:0001399Hepatic failure3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001399HP:0001399Hepatic failure3BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15032115832606158
HP:0001399HP:0001399Hepatic failure3CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113801527601047
HP:0001399HP:0001399Hepatic failure3CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA1151089688603198
HP:0001399HP:0001399Hepatic failure3COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001399HP:0001399Hepatic failure3CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001399HP:0001399Hepatic failure3CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001399HP:0001399Hepatic failure3CYP7B1 CL E G H942079302ORPHA1632362652603711
HP:0001399HP:0001399Hepatic failure3CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1632362652603711
HP:0001399HP:0001399Hepatic failure3DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641342858601465
HP:0001399HP:0001399Hepatic failure3EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0001399HP:0001399Hepatic failure3FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM11952533647612386
HP:0001399HP:0001399Hepatic failure3FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM121611003700136850
HP:0001399HP:0001399Hepatic failure3FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12293796164810
HP:0001399HP:0001399Hepatic failure3GALT CL E G H259279239ORPHA13376494135606999
HP:0001399HP:0001399Hepatic failure3GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942454177606463
HP:0001399HP:0001399Hepatic failure3GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001399HP:0001399Hepatic failure3HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM12610218324607764
HP:0001399HP:0001399Hepatic failure3IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12331113556606045
HP:0001399HP:0001399Hepatic failure3IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12757130391607386
HP:0001399HP:0001399Hepatic failure3IL12A CL E G H3592186ORPHA12275969161560
HP:0001399HP:0001399Hepatic failure3IL12RB1 CL E G H3594186ORPHA1882695971601604
HP:0001399HP:0001399Hepatic failure3IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1102146006605383
HP:0001399HP:0001399Hepatic failure3IRF5 CL E G H3663186ORPHA110396120607218
HP:0001399HP:0001399Hepatic failure3LIPA CL E G H398875233ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure3LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1963376617613497
HP:0001399HP:0001399Hepatic failure3MMEL1 CL E G H79258186ORPHA1113514668618104
HP:0001399HP:0001399Hepatic failure3MOGS CL E G H784179330ORPHA1823724862601336
HP:0001399HP:0001399Hepatic failure3MPI CL E G H435179319ORPHA1212517216154550
HP:0001399HP:0001399Hepatic failure3MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1212517216154550
HP:0001399HP:0001399Hepatic failure3MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM115514499611974
HP:0001399HP:0001399Hepatic failure3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001399HP:0001399Hepatic failure3NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0001399HP:0001399Hepatic failure3NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18817967603826
HP:0001399HP:0001399Hepatic failure3OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0001399HP:0001399Hepatic failure3OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15277398512300461
HP:0001399HP:0001399Hepatic failure3PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101348724614168
HP:0001399HP:0001399Hepatic failure3PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12638725614095
HP:0001399HP:0001399Hepatic failure3PEX1 CL E G H5189912ORPHA11407828850602136
HP:0001399HP:0001399Hepatic failure3PEX10 CL E G H5192912ORPHA1324758851602859
HP:0001399HP:0001399Hepatic failure3PEX11B CL E G H8799912ORPHA182818853603867
HP:0001399HP:0001399Hepatic failure3PEX12 CL E G H5193912ORPHA1372408854601758
HP:0001399HP:0001399Hepatic failure3PEX13 CL E G H5194912ORPHA1102328855601789
HP:0001399HP:0001399Hepatic failure3PEX14 CL E G H5195912ORPHA152348856601791
HP:0001399HP:0001399Hepatic failure3PEX16 CL E G H9409912ORPHA1152038857603360
HP:0001399HP:0001399Hepatic failure3PEX19 CL E G H5824912ORPHA141799713600279
HP:0001399HP:0001399Hepatic failure3PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141799713600279
HP:0001399HP:0001399Hepatic failure3PEX2 CL E G H5828912ORPHA1182519717170993
HP:0001399HP:0001399Hepatic failure3PEX26 CL E G H55670912ORPHA12731322965608666
HP:0001399HP:0001399Hepatic failure3PEX3 CL E G H8504912ORPHA1101558858603164
HP:0001399HP:0001399Hepatic failure3PEX5 CL E G H5830912ORPHA1144039719600414
HP:0001399HP:0001399Hepatic failure3PEX6 CL E G H5190912ORPHA11096398859601498
HP:0001399HP:0001399Hepatic failure3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0001399HP:0001399Hepatic failure3POU2AF1 CL E G H5450186ORPHA11229211601206
HP:0001399HP:0001399Hepatic failure3PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA1541059236601487
HP:0001399HP:0001399Hepatic failure3SC5D CL E G H630946059ORPHA1618810547602286
HP:0001399HP:0001399Hepatic failure3SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1116714372607982
HP:0001399HP:0001399Hepatic failure3SERPINA1 CL E G H526560ORPHA11083248941107400
HP:0001399HP:0001399Hepatic failure3SPIB CL E G H6689186ORPHA112411242606802
HP:0001399HP:0001399Hepatic failure3TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM144011741600438
HP:0001399HP:0001399Hepatic failure3TJP2 CL E G H9414615878Progressive familial intrahepatic cholestasis 4615878C2931067OMIM12745311828607709
HP:0001399HP:0001399Hepatic failure3TNFSF15 CL E G H9966186ORPHA123611931604052
HP:0001399HP:0001399Hepatic failure3TNPO3 CL E G H23534186ORPHA1531317103610032
HP:0001399HP:0001399Hepatic failure3TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16419323639614589
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001399HP:0001399Hepatic failure0ACVRL1 CL E G H94774ORPHA0432584175601284
HP:0001399HP:0001399Hepatic failure0ATRX CL E G H546100075ORPHA01701074886300032
HP:0001399HP:0001399Hepatic failure0BTNL2 CL E G H56244797ORPHA011191142606000
HP:0001399HP:0001399Hepatic failure0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM055428178613734
HP:0001399HP:0001399Hepatic failure0CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0949429182614848
HP:0001399HP:0001399Hepatic failure0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0620918620606976
HP:0001399HP:0001399Hepatic failure0CPT2 CL E G H1376228305ORPHA01135012330600650
HP:0001399HP:0001399Hepatic failure0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03472226169613129
HP:0001399HP:0001399Hepatic failure0DAXX CL E G H1616100075ORPHA0182681603186
HP:0001399HP:0001399Hepatic failure0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0753942890300126
HP:0001399HP:0001399Hepatic failure0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0233272898238331
HP:0001399HP:0001399Hepatic failure0ENG CL E G H2022774ORPHA04978833349131195
HP:0001399HP:0001399Hepatic failure0GDF2 CL E G H2658774ORPHA0172034217605120
HP:0001399HP:0001399Hepatic failure0HLA-DRB1 CL E G H3123797ORPHA026244948142857
HP:0001399HP:0001399Hepatic failure0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM06208876188601920
HP:0001399HP:0001399Hepatic failure0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0311314377606470
HP:0001399HP:0001399Hepatic failure0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017514378606471
HP:0001399HP:0001399Hepatic failure0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0292658609604212
HP:0001399HP:0001399Hepatic failure0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001399HP:0001399Hepatic failure0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA054131815888608833
HP:0001399HP:0001399Hepatic failure0SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001399HP:0001399Hepatic failure0SMAD4 CL E G H4089774ORPHA014714006770600993
HP:0001399HP:0001399Hepatic failure0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07422711727602322
HP:0001399HP:0001399Hepatic failure0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0173159711730187270
HP:0001399HP:0001399Hepatic failure0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04222911824604319
HP:0001399HP:0001399Hepatic failure0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM07114416808605981
HP:0001399HP:0001399Hepatic failure0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02211625792613276
HP:0001399HP:0001399Hepatic failure0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0717425522612661
HP:0001399HP:0001399Hepatic failure1ACVRL1 CL E G H94774ORPHA0432584175601284
HP:0001399HP:0001399Hepatic failure1ATRX CL E G H546100075ORPHA01701074886300032
HP:0001399HP:0001399Hepatic failure1BTNL2 CL E G H56244797ORPHA011191142606000
HP:0001399HP:0001399Hepatic failure1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM055428178613734
HP:0001399HP:0001399Hepatic failure1CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0949429182614848
HP:0001399HP:0001399Hepatic failure1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0620918620606976
HP:0001399HP:0001399Hepatic failure1CPT2 CL E G H1376228305ORPHA01135012330600650
HP:0001399HP:0001399Hepatic failure1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03472226169613129
HP:0001399HP:0001399Hepatic failure1DAXX CL E G H1616100075ORPHA0182681603186
HP:0001399HP:0001399Hepatic failure1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0753942890300126
HP:0001399HP:0001399Hepatic failure1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0233272898238331
HP:0001399HP:0001399Hepatic failure1ENG CL E G H2022774ORPHA04978833349131195
HP:0001399HP:0001399Hepatic failure1GDF2 CL E G H2658774ORPHA0172034217605120
HP:0001399HP:0001399Hepatic failure1HLA-DRB1 CL E G H3123797ORPHA026244948142857
HP:0001399HP:0001399Hepatic failure1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM06208876188601920
HP:0001399HP:0001399Hepatic failure1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0311314377606470
HP:0001399HP:0001399Hepatic failure1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017514378606471
HP:0001399HP:0001399Hepatic failure1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0292658609604212
HP:0001399HP:0001399Hepatic failure1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001399HP:0001399Hepatic failure1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA054131815888608833
HP:0001399HP:0001399Hepatic failure1SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001399HP:0001399Hepatic failure1SMAD4 CL E G H4089774ORPHA014714006770600993
HP:0001399HP:0001399Hepatic failure1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07422711727602322
HP:0001399HP:0001399Hepatic failure1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0173159711730187270
HP:0001399HP:0001399Hepatic failure1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04222911824604319
HP:0001399HP:0001399Hepatic failure1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM07114416808605981
HP:0001399HP:0001399Hepatic failure1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02211625792613276
HP:0001399HP:0001399Hepatic failure1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0717425522612661
HP:0001399HP:0001399Hepatic failure2ACVRL1 CL E G H94774ORPHA0432584175601284
HP:0001399HP:0001399Hepatic failure2ATRX CL E G H546100075ORPHA01701074886300032
HP:0001399HP:0001399Hepatic failure2BTNL2 CL E G H56244797ORPHA011191142606000
HP:0001399HP:0001399Hepatic failure2CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM055428178613734
HP:0001399HP:0001399Hepatic failure2CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0949429182614848
HP:0001399HP:0001399Hepatic failure2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0620918620606976
HP:0001399HP:0001399Hepatic failure2CPT2 CL E G H1376228305ORPHA01135012330600650
HP:0001399HP:0001399Hepatic failure2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03472226169613129
HP:0001399HP:0001399Hepatic failure2DAXX CL E G H1616100075ORPHA0182681603186
HP:0001399HP:0001399Hepatic failure2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0753942890300126
HP:0001399HP:0001399Hepatic failure2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0233272898238331
HP:0001399HP:0001399Hepatic failure2ENG CL E G H2022774ORPHA04978833349131195
HP:0001399HP:0001399Hepatic failure2GDF2 CL E G H2658774ORPHA0172034217605120
HP:0001399HP:0001399Hepatic failure2HLA-DRB1 CL E G H3123797ORPHA026244948142857
HP:0001399HP:0001399Hepatic failure2JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM06208876188601920
HP:0001399HP:0001399Hepatic failure2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0311314377606470
HP:0001399HP:0001399Hepatic failure2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017514378606471
HP:0001399HP:0001399Hepatic failure2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0292658609604212
HP:0001399HP:0001399Hepatic failure2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001399HP:0001399Hepatic failure2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA054131815888608833
HP:0001399HP:0001399Hepatic failure2SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001399HP:0001399Hepatic failure2SMAD4 CL E G H4089774ORPHA014714006770600993
HP:0001399HP:0001399Hepatic failure2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07422711727602322
HP:0001399HP:0001399Hepatic failure2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0173159711730187270
HP:0001399HP:0001399Hepatic failure2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04222911824604319
HP:0001399HP:0001399Hepatic failure2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM07114416808605981
HP:0001399HP:0001399Hepatic failure2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02211625792613276
HP:0001399HP:0001399Hepatic failure2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0717425522612661
HP:0001399HP:0001399Hepatic failure3ACVRL1 CL E G H94774ORPHA0432584175601284
HP:0001399HP:0001399Hepatic failure3ATRX CL E G H546100075ORPHA01701074886300032
HP:0001399HP:0001399Hepatic failure3BTNL2 CL E G H56244797ORPHA011191142606000
HP:0001399HP:0001399Hepatic failure3CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM055428178613734
HP:0001399HP:0001399Hepatic failure3CEP164 CL E G H22897614845Nephronophthisis 15614845C3541853OMIM0949429182614848
HP:0001399HP:0001399Hepatic failure3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0620918620606976
HP:0001399HP:0001399Hepatic failure3CPT2 CL E G H1376228305ORPHA01135012330600650
HP:0001399HP:0001399Hepatic failure3CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03472226169613129
HP:0001399HP:0001399Hepatic failure3DAXX CL E G H1616100075ORPHA0182681603186
HP:0001399HP:0001399Hepatic failure3DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0753942890300126
HP:0001399HP:0001399Hepatic failure3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0233272898238331
HP:0001399HP:0001399Hepatic failure3ENG CL E G H2022774ORPHA04978833349131195
HP:0001399HP:0001399Hepatic failure3GDF2 CL E G H2658774ORPHA0172034217605120
HP:0001399HP:0001399Hepatic failure3HLA-DRB1 CL E G H3123797ORPHA026244948142857
HP:0001399HP:0001399Hepatic failure3JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM06208876188601920
HP:0001399HP:0001399Hepatic failure3NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0311314377606470
HP:0001399HP:0001399Hepatic failure3NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017514378606471
HP:0001399HP:0001399Hepatic failure3PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0292658609604212
HP:0001399HP:0001399Hepatic failure3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001399HP:0001399Hepatic failure3RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA054131815888608833
HP:0001399HP:0001399Hepatic failure3SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001399HP:0001399Hepatic failure3SMAD4 CL E G H4089774ORPHA014714006770600993
HP:0001399HP:0001399Hepatic failure3TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07422711727602322
HP:0001399HP:0001399Hepatic failure3TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0173159711730187270
HP:0001399HP:0001399Hepatic failure3TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04222911824604319
HP:0001399HP:0001399Hepatic failure3UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM07114416808605981
HP:0001399HP:0001399Hepatic failure3USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02211625792613276
HP:0001399HP:0001399Hepatic failure3WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0717425522612661


Genes (129) :ABCD3 ACAD9 ACVRL1 AGPAT2 AKR1D1 ALG1 ALG6 ALG8 ALG9 ALMS1 AMACR ATP7B ATRX BSCL2 BTNL2 CACNA1S CAV1 CAVIN1 CC2D2A CCDC115 CEP164 COG4 COQ2 CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F5 FAH FECH FH FOS GALT GBA GBE1 GDF2 GFM1 GPR35 HADH HADHA HADHB HLA-B HLA-DRB1 HSD3B7 IFT122 IFT172 IKZF1 IL12A IL12RB1 IL21R INPP5E IRF5 JAG1 JAK2 LARS LIPA MEFV MMEL1 MOGS MPI MPV17 MRPS7 MST1 NBAS NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NR1H4 OSTM1 OTC PARN PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POLG PORCN POU2AF1 PPARG PTPN22 RPGRIP1L RTEL1 RYR1 SC5D SCYL1 SERPINA1 SH2D1A SLC25A20 SMAD4 SP110 SPIB TCF4 TERC TERT TFAM TINF2 TJP2 TMEM67 TNFSF15 TNPO3 TRMU TRNT TTC37 UBR1 USB1 VPS13A WRAP53 XIAP

Diseases (91) :616278 611126 774 528 235555 79327 79320 79325 79328 214950 277900 100075 797 616828 614845 613489 607426 156 228305 228308 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 June 2019 release.