Human Phenotype Ontology 
Grandparent Node:
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Storage in hepatocytes (HP:0031137)help
Parent Node:
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Lipid accumulation in hepatocytes (HP:0006561)help
..Starting node
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Hepatic steatosis (HP:0001397)help
Term ID: 1397
Name: Hepatic steatosis
Synonym: Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis
Definition: The presence of steatosis in the liver.
Comments:
Reference: HP:0001397
Genes and Diseases:
 
       Child Nodes:
........expandMacrovesicular hepatic steatosis (HP:0001403) help
........expandMicrovesicular hepatic steatosis (HP:0001414) help
........expandDiffuse hepatic steatosis (HP:0006555) help
........expandAcute hepatic steatosis (HP:0006573) help

 Sister Nodes: 
..expandIncreased hepatocellular lipid droplets (HP:0006565) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001397HP:0001397Hepatic steatosis0ABCG5 CL E G H64240391665ORPHA14720113886605459
HP:0001397HP:0001397Hepatic steatosis0ABCG8 CL E G H64241391665ORPHA15129313887605460
HP:0001397HP:0001397Hepatic steatosis0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0001397HP:0001397Hepatic steatosis0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0001397HP:0001397Hepatic steatosis0ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0001397HP:0001397Hepatic steatosis0ACADL CL E G H3399900ORPHA123388609576
HP:0001397HP:0001397Hepatic steatosis0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0001397HP:0001397Hepatic steatosis0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128376792609575
HP:0001397HP:0001397Hepatic steatosis0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0001397HP:0001397Hepatic steatosis0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0001397HP:0001397Hepatic steatosis0AKT2 CL E G H20879085ORPHA1746392164731
HP:0001397HP:0001397Hepatic steatosis0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0001397HP:0001397Hepatic steatosis0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0001397HP:0001397Hepatic steatosis0APOB CL E G H338391665ORPHA13332169603107730
HP:0001397HP:0001397Hepatic steatosis0APOE CL E G H348412ORPHA16462613107741
HP:0001397HP:0001397Hepatic steatosis0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001397HP:0001397Hepatic steatosis0ATP7B CL E G H540905ORPHA1938958870606882
HP:0001397HP:0001397Hepatic steatosis0BCS1L CL E G H61753693ORPHA1371741020603647
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580363400ORPHA15026315832606158
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0001397HP:0001397Hepatic steatosis0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM113621527601047
HP:0001397HP:0001397Hepatic steatosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0001397HP:0001397Hepatic steatosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12146111550613381
HP:0001397HP:0001397Hepatic steatosis0CIDEC CL E G H63924435651ORPHA116224229612120
HP:0001397HP:0001397Hepatic steatosis0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM116224229612120
HP:0001397HP:0001397Hepatic steatosis0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM151882263603646
HP:0001397HP:0001397Hepatic steatosis0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0001397HP:0001397Hepatic steatosis0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001397HP:0001397Hepatic steatosis0DDOST CL E G H1650300536ORPHA121062728602202
HP:0001397HP:0001397Hepatic steatosis0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001397HP:0001397Hepatic steatosis0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0001397HP:0001397Hepatic steatosis0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0001397HP:0001397Hepatic steatosis0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0001397HP:0001397Hepatic steatosis0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0001397HP:0001397Hepatic steatosis0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA1347524945612757
HP:0001397HP:0001397Hepatic steatosis0HADH CL E G H303371212ORPHA126944799601609
HP:0001397HP:0001397Hepatic steatosis0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001397HP:0001397Hepatic steatosis0HFE CL E G H3077465508ORPHA1611034886613609
HP:0001397HP:0001397Hepatic steatosis0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0001397HP:0001397Hepatic steatosis0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001397HP:0001397Hepatic steatosis0LDLR CL E G H3949391665ORPHA1223130456547606945
HP:0001397HP:0001397Hepatic steatosis0LDLRAP1 CL E G H26119391665ORPHA12618118640605747
HP:0001397HP:0001397Hepatic steatosis0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0001397HP:0001397Hepatic steatosis0LIPE CL E G H3991435660ORPHA18496621151750
HP:0001397HP:0001397Hepatic steatosis0LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM18496621151750
HP:0001397HP:0001397Hepatic steatosis0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA1229914154611761
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H400079474ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000280365ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H400079084ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM157411526636150330
HP:0001397HP:0001397Hepatic steatosis0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM159021365613311
HP:0001397HP:0001397Hepatic steatosis0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001397HP:0001397Hepatic steatosis0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM114314499611974
HP:0001397HP:0001397Hepatic steatosis0NSMCE2 CL E G H286053436182ORPHA125726513617246
HP:0001397HP:0001397Hepatic steatosis0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0001397HP:0001397Hepatic steatosis0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101238724614168
HP:0001397HP:0001397Hepatic steatosis0PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12588725614095
HP:0001397HP:0001397Hepatic steatosis0PCSK9 CL E G H255738391665ORPHA111172220001607786
HP:0001397HP:0001397Hepatic steatosis0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0001397HP:0001397Hepatic steatosis0PLIN1 CL E G H5346280356ORPHA110719076170290
HP:0001397HP:0001397Hepatic steatosis0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM110719076170290
HP:0001397HP:0001397Hepatic steatosis0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0001397HP:0001397Hepatic steatosis0PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0001397HP:0001397Hepatic steatosis0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0001397HP:0001397Hepatic steatosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM154909236601487
HP:0001397HP:0001397Hepatic steatosis0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0001397HP:0001397Hepatic steatosis0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0001397HP:0001397Hepatic steatosis0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111522910983603859
HP:0001397HP:0001397Hepatic steatosis0SLC40A1 CL E G H30061139491ORPHA16713410909604653
HP:0001397HP:0001397Hepatic steatosis0TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM137730740612805
HP:0001397HP:0001397Hepatic steatosis0XRCC4 CL E G H7518436182ORPHA1153712831194363
HP:0001397HP:0001397Hepatic steatosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0001397HP:0001397Hepatic steatosis1ABCG5 CL E G H64240391665ORPHA14720113886605459
HP:0001397HP:0001397Hepatic steatosis1ABCG8 CL E G H64241391665ORPHA15129313887605460
HP:0001397HP:0001397Hepatic steatosis1ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0001397HP:0001397Hepatic steatosis1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0001397HP:0001397Hepatic steatosis1ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0001397HP:0001397Hepatic steatosis1ACADL CL E G H3399900ORPHA123388609576
HP:0001397HP:0001397Hepatic steatosis1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0001397HP:0001397Hepatic steatosis1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128376792609575
HP:0001397HP:0001397Hepatic steatosis1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0001397HP:0001397Hepatic steatosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0001397HP:0001397Hepatic steatosis1AKT2 CL E G H20879085ORPHA1746392164731
HP:0001397HP:0001397Hepatic steatosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0001397HP:0001397Hepatic steatosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0001397HP:0001397Hepatic steatosis1APOB CL E G H338391665ORPHA13332169603107730
HP:0001397HP:0001397Hepatic steatosis1APOE CL E G H348412ORPHA16462613107741
HP:0001397HP:0001397Hepatic steatosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001397HP:0001397Hepatic steatosis1ATP7B CL E G H540905ORPHA1938958870606882
HP:0001397HP:0001397Hepatic steatosis1BCS1L CL E G H61753693ORPHA1371741020603647
HP:0001397HP:0001397Hepatic steatosis1BSCL2 CL E G H26580363400ORPHA15026315832606158
HP:0001397HP:0001397Hepatic steatosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0001397HP:0001397Hepatic steatosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM113621527601047
HP:0001397HP:0001397Hepatic steatosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0001397HP:0001397Hepatic steatosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12146111550613381
HP:0001397HP:0001397Hepatic steatosis1CIDEC CL E G H63924435651ORPHA116224229612120
HP:0001397HP:0001397Hepatic steatosis1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM116224229612120
HP:0001397HP:0001397Hepatic steatosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM151882263603646
HP:0001397HP:0001397Hepatic steatosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0001397HP:0001397Hepatic steatosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001397HP:0001397Hepatic steatosis1DDOST CL E G H1650300536ORPHA121062728602202
HP:0001397HP:0001397Hepatic steatosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001397HP:0001397Hepatic steatosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0001397HP:0001397Hepatic steatosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0001397HP:0001397Hepatic steatosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0001397HP:0001397Hepatic steatosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0001397HP:0001397Hepatic steatosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA1347524945612757
HP:0001397HP:0001397Hepatic steatosis1HADH CL E G H303371212ORPHA126944799601609
HP:0001397HP:0001397Hepatic steatosis1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001397HP:0001397Hepatic steatosis1HFE CL E G H3077465508ORPHA1611034886613609
HP:0001397HP:0001397Hepatic steatosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0001397HP:0001397Hepatic steatosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001397HP:0001397Hepatic steatosis1LDLR CL E G H3949391665ORPHA1223130456547606945
HP:0001397HP:0001397Hepatic steatosis1LDLRAP1 CL E G H26119391665ORPHA12618118640605747
HP:0001397HP:0001397Hepatic steatosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0001397HP:0001397Hepatic steatosis1LIPE CL E G H3991435660ORPHA18496621151750
HP:0001397HP:0001397Hepatic steatosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM18496621151750
HP:0001397HP:0001397Hepatic steatosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA1229914154611761
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H4000280365ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H400079084ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H400079474ORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM157411526636150330
HP:0001397HP:0001397Hepatic steatosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM159021365613311
HP:0001397HP:0001397Hepatic steatosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001397HP:0001397Hepatic steatosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM114314499611974
HP:0001397HP:0001397Hepatic steatosis1NSMCE2 CL E G H286053436182ORPHA125726513617246
HP:0001397HP:0001397Hepatic steatosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0001397HP:0001397Hepatic steatosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101238724614168
HP:0001397HP:0001397Hepatic steatosis1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM12588725614095
HP:0001397HP:0001397Hepatic steatosis1PCSK9 CL E G H255738391665ORPHA111172220001607786
HP:0001397HP:0001397Hepatic steatosis1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0001397HP:0001397Hepatic steatosis1PLIN1 CL E G H5346280356ORPHA110719076170290
HP:0001397HP:0001397Hepatic steatosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM110719076170290
HP:0001397HP:0001397Hepatic steatosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0001397HP:0001397Hepatic steatosis1PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0001397HP:0001397Hepatic steatosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0001397HP:0001397Hepatic steatosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0001397HP:0001397Hepatic steatosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM154909236601487
HP:0001397HP:0001397Hepatic steatosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0001397HP:0001397Hepatic steatosis1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0001397HP:0001397Hepatic steatosis1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111522910983603859
HP:0001397HP:0001397Hepatic steatosis1SLC40A1 CL E G H30061139491ORPHA16713410909604653
HP:0001397HP:0001397Hepatic steatosis1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM137730740612805
HP:0001397HP:0001397Hepatic steatosis1XRCC4 CL E G H7518436182ORPHA1153712831194363
HP:0001397HP:0001397Hepatic steatosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001397HP:0001397Hepatic steatosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043189325603100
HP:0001397HP:0001397Hepatic steatosis0ALMS1 CL E G H784064ORPHA03161745428606844
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05026315832606158
HP:0001397HP:0001397Hepatic steatosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013621527601047
HP:0001397HP:0001397Hepatic steatosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015949688603198
HP:0001397HP:0001397Hepatic steatosis0CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM0211128209615586
HP:0001397HP:0001397Hepatic steatosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02283796164810
HP:0001397HP:0001397Hepatic steatosis0GABRD CL E G H25631606ORPHA072784084137163
HP:0001397HP:0001397Hepatic steatosis0HNF1B CL E G H692893111ORPHA024048811630189907
HP:0001397HP:0001397Hepatic steatosis0HNF4A CL E G H317293111ORPHA01572835024600281
HP:0001397HP:0001397Hepatic steatosis0HNRNPA1 CL E G H317852430ORPHA012535031164017
HP:0001397HP:0001397Hepatic steatosis0HNRNPA2B1 CL E G H318152430ORPHA05735033600124
HP:0001397HP:0001397Hepatic steatosis0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM0155330600709
HP:0001397HP:0001397Hepatic steatosis0KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H40002348ORPHA057411526636150330
HP:0001397HP:0001397Hepatic steatosis0LMNB2 CL E G H8482379087ORPHA051996638150341
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H546879083ORPHA054909236601487
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054909236601487
HP:0001397HP:0001397Hepatic steatosis0PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0001397HP:0001397Hepatic steatosis0RERE CL E G H4731606ORPHA0251619965605226
HP:0001397HP:0001397Hepatic steatosis0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA0163710535607690
HP:0001397HP:0001397Hepatic steatosis0SKI CL E G H64971606ORPHA02450210896164780
HP:0001397HP:0001397Hepatic steatosis0TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM052618085616815
HP:0001397HP:0001397Hepatic steatosis0TRAPPC11 CL E G H60684369840ORPHA01735125751614138
HP:0001397HP:0001397Hepatic steatosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM01735125751614138
HP:0001397HP:0001397Hepatic steatosis0VCP CL E G H741552430ORPHA06526012666601023
HP:0001397HP:0001397Hepatic steatosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043189325603100
HP:0001397HP:0001397Hepatic steatosis1ALMS1 CL E G H784064ORPHA03161745428606844
HP:0001397HP:0001397Hepatic steatosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05026315832606158
HP:0001397HP:0001397Hepatic steatosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013621527601047
HP:0001397HP:0001397Hepatic steatosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015949688603198
HP:0001397HP:0001397Hepatic steatosis1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM0211128209615586
HP:0001397HP:0001397Hepatic steatosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02283796164810
HP:0001397HP:0001397Hepatic steatosis1GABRD CL E G H25631606ORPHA072784084137163
HP:0001397HP:0001397Hepatic steatosis1HNF1B CL E G H692893111ORPHA024048811630189907
HP:0001397HP:0001397Hepatic steatosis1HNF4A CL E G H317293111ORPHA01572835024600281
HP:0001397HP:0001397Hepatic steatosis1HNRNPA1 CL E G H317852430ORPHA012535031164017
HP:0001397HP:0001397Hepatic steatosis1HNRNPA2B1 CL E G H318152430ORPHA05735033600124
HP:0001397HP:0001397Hepatic steatosis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM0155330600709
HP:0001397HP:0001397Hepatic steatosis1KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0001397HP:0001397Hepatic steatosis1LMNA CL E G H40002348ORPHA057411526636150330
HP:0001397HP:0001397Hepatic steatosis1LMNB2 CL E G H8482379087ORPHA051996638150341
HP:0001397HP:0001397Hepatic steatosis1PPARG CL E G H546879083ORPHA054909236601487
HP:0001397HP:0001397Hepatic steatosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054909236601487
HP:0001397HP:0001397Hepatic steatosis1PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0001397HP:0001397Hepatic steatosis1RERE CL E G H4731606ORPHA0251619965605226
HP:0001397HP:0001397Hepatic steatosis1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA0163710535607690
HP:0001397HP:0001397Hepatic steatosis1SKI CL E G H64971606ORPHA02450210896164780
HP:0001397HP:0001397Hepatic steatosis1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM052618085616815
HP:0001397HP:0001397Hepatic steatosis1TRAPPC11 CL E G H60684369840ORPHA01735125751614138
HP:0001397HP:0001397Hepatic steatosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM01735125751614138
HP:0001397HP:0001397Hepatic steatosis1VCP CL E G H741552430ORPHA06526012666601023


Genes (100) :ABCG5 ABCG8 ABHD5 ACAD9 ACADL ACADM ACADVL ACOX1 ADK AGPAT2 AKT2 ALDOB ALMS1 APOB APOE ATP6AP1 ATP7B BCS1L BSCL2 CARS2 CAV1 CAVIN1 CBS CEP19 CIDEC COA8 COG6 COX15 CPT1A CPT2 CYP19A1 CYP7A1 DDOST DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FOS GABRD GPD1 GPIHBP1 HADH HADHA HADHB HFE HNF1B HNF4A HNRNPA1 HNRNPA2B1 HSD17B4 IARS KCNAB2 LARS LDLR LDLRAP1 LIPA LIPE LMF1 LMNA LMNB2 LRPPRC LYRM4 MARS MCCC1 MPV17 MRPL44 MRPS7 NDUFAF1 NSMCE2 PCK1 PCK2 PCSK9 PGM1 PLIN1 PMM2 PNPLA2 POLD1 POLG PPARG PRDM16 RERE RMND1 RRM2B SAR1B SKI SLC22A5 SLC25A13 SLC40A1 TARS2 TFAM TMEM199 TRAPPC11 TRMU TYMP VCP VPS33A XRCC4 ZMPSTE24

Diseases (101) :391665 98907 275630 99901 99900 201450 201475 614300 528 608594 79085 229600 64 203800 412 300972 905 53693 363400 269700 612526 613327 236200 615703 435651 615238 615119 255120 91 300536 251880 231680 1606 614480 444490 71212 231530 465508 93111 52430 261515 617093 615438 278000 435660 615980 2348 79084 280365 79474 740 151660 79087 615595 615486 617872 436182 617253 261680 261650 614921 280356 613877 212065 98908 610717 615381 79083 604367 614922 71 212140 603471 139491 615918 616829 369840 615356 611126 264470 124000 616672 436271 614576 600649 608836 209902 66634 610198 614924 746 220111 210200 256810 615395 618234 298 203700 617156 613070 617303
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.