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: Steatosis is a term used to denote lipid accumulation within hepatocytes.
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 H64240391665ORPHA160513886605459
HP:0001397HP:0001397Hepatic steatosis0ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0001397HP:0001397Hepatic steatosis0ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0001397HP:0001397Hepatic steatosis0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0001397HP:0001397Hepatic steatosis0ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001397HP:0001397Hepatic steatosis0ACADL CL E G H3399900ORPHA16288609576
HP:0001397HP:0001397Hepatic steatosis0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001397HP:0001397Hepatic steatosis0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001397HP:0001397Hepatic steatosis0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001397HP:0001397Hepatic steatosis0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1242325603100
HP:0001397HP:0001397Hepatic steatosis0AKT2 CL E G H20879085ORPHA1146392164731
HP:0001397HP:0001397Hepatic steatosis0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0001397HP:0001397Hepatic steatosis0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM15525428606844
HP:0001397HP:0001397Hepatic steatosis0APOB CL E G H338391665ORPHA12916603107730
HP:0001397HP:0001397Hepatic steatosis0APOE CL E G H348412ORPHA1166613107741
HP:0001397HP:0001397Hepatic steatosis0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0001397HP:0001397Hepatic steatosis0ATP7B CL E G H540905ORPHA12303870606882
HP:0001397HP:0001397Hepatic steatosis0BCS1L CL E G H61753693ORPHA14131020603647
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001397HP:0001397Hepatic steatosis0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001397HP:0001397Hepatic steatosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0001397HP:0001397Hepatic steatosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM111201550613381
HP:0001397HP:0001397Hepatic steatosis0CIDEC CL E G H63924435651ORPHA19624229612120
HP:0001397HP:0001397Hepatic steatosis0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM19624229612120
HP:0001397HP:0001397Hepatic steatosis0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001397HP:0001397Hepatic steatosis0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001397HP:0001397Hepatic steatosis0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA14122594107910
HP:0001397HP:0001397Hepatic steatosis0DDOST CL E G H1650300536ORPHA12532728602202
HP:0001397HP:0001397Hepatic steatosis0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001397HP:0001397Hepatic steatosis0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001397HP:0001397Hepatic steatosis0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001397HP:0001397Hepatic steatosis0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001397HP:0001397Hepatic steatosis0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001397HP:0001397Hepatic steatosis0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001397HP:0001397Hepatic steatosis0HADH CL E G H303371212ORPHA12294799601609
HP:0001397HP:0001397Hepatic steatosis0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001397HP:0001397Hepatic steatosis0HFE CL E G H3077465508ORPHA12374886613609
HP:0001397HP:0001397Hepatic steatosis0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM19835213601860
HP:0001397HP:0001397Hepatic steatosis0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001397HP:0001397Hepatic steatosis0LDLR CL E G H3949391665ORPHA138196547606945
HP:0001397HP:0001397Hepatic steatosis0LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0001397HP:0001397Hepatic steatosis0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001397HP:0001397Hepatic steatosis0LIPE CL E G H3991435660ORPHA11446621151750
HP:0001397HP:0001397Hepatic steatosis0LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0001397HP:0001397Hepatic steatosis0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H400079084ORPHA118146636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000280365ORPHA118146636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H400079474ORPHA118146636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM118146636150330
HP:0001397HP:0001397Hepatic steatosis0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0001397HP:0001397Hepatic steatosis0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001397HP:0001397Hepatic steatosis0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0001397HP:0001397Hepatic steatosis0NSMCE2 CL E G H286053436182ORPHA112126513617246
HP:0001397HP:0001397Hepatic steatosis0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0001397HP:0001397Hepatic steatosis0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0001397HP:0001397Hepatic steatosis0PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM11718725614095
HP:0001397HP:0001397Hepatic steatosis0PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0001397HP:0001397Hepatic steatosis0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM14138905171900
HP:0001397HP:0001397Hepatic steatosis0PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001397HP:0001397Hepatic steatosis0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0001397HP:0001397Hepatic steatosis0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001397HP:0001397Hepatic steatosis0PNPLA2 CL E G H5710498908ORPHA156630802609059
HP:0001397HP:0001397Hepatic steatosis0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM156630802609059
HP:0001397HP:0001397Hepatic steatosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11669236601487
HP:0001397HP:0001397Hepatic steatosis0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001397HP:0001397Hepatic steatosis0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001397HP:0001397Hepatic steatosis0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM165510983603859
HP:0001397HP:0001397Hepatic steatosis0SLC40A1 CL E G H30061139491ORPHA124410909604653
HP:0001397HP:0001397Hepatic steatosis0TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0001397HP:0001397Hepatic steatosis0XRCC4 CL E G H7518436182ORPHA112912831194363
HP:0001397HP:0001397Hepatic steatosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0001397HP:0006555Diffuse hepatic steatosis1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0001397HP:0006573Acute hepatic steatosis1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0001397HP:0001414Microvesicular hepatic steatosis1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0001397HP:0006573Acute hepatic steatosis1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0001397HP:0001414Microvesicular hepatic steatosis1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0001397HP:0006555Diffuse hepatic steatosis1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0001397HP:0001414Microvesicular hepatic steatosis1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0001397HP:0006555Diffuse hepatic steatosis1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0001397HP:0006573Acute hepatic steatosis1ABHD5 CL E G H5109998907ORPHA129121396604780
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0001397HP:0006555Diffuse hepatic steatosis1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0001397HP:0006573Acute hepatic steatosis1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0001397HP:0001414Microvesicular hepatic steatosis1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM129121396604780
HP:0001397HP:0006573Acute hepatic steatosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001397HP:0001414Microvesicular hepatic steatosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001397HP:0006555Diffuse hepatic steatosis1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001397HP:0006555Diffuse hepatic steatosis1ACADL CL E G H3399900ORPHA16288609576
HP:0001397HP:0006573Acute hepatic steatosis1ACADL CL E G H3399900ORPHA16288609576
HP:0001397HP:0001414Microvesicular hepatic steatosis1ACADL CL E G H3399900ORPHA16288609576
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ACADL CL E G H3399900ORPHA16288609576
HP:0001397HP:0001414Microvesicular hepatic steatosis1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001397HP:0006555Diffuse hepatic steatosis1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001397HP:0006573Acute hepatic steatosis1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001397HP:0006555Diffuse hepatic steatosis1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001397HP:0006573Acute hepatic steatosis1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001397HP:0001414Microvesicular hepatic steatosis1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001397HP:0006573Acute hepatic steatosis1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001397HP:0001414Microvesicular hepatic steatosis1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001397HP:0006555Diffuse hepatic steatosis1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0001397HP:0006555Diffuse hepatic steatosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1242325603100
HP:0001397HP:0006573Acute hepatic steatosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1242325603100
HP:0001397HP:0001414Microvesicular hepatic steatosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1242325603100
HP:0001397HP:0001403Macrovesicular hepatic steatosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1242325603100
HP:0001397HP:0006573Acute hepatic steatosis1AKT2 CL E G H20879085ORPHA1146392164731
HP:0001397HP:0001414Microvesicular hepatic steatosis1AKT2 CL E G H20879085ORPHA1146392164731
HP:0001397HP:0001403Macrovesicular hepatic steatosis1AKT2 CL E G H20879085ORPHA1146392164731
HP:0001397HP:0006555Diffuse hepatic steatosis1AKT2 CL E G H20879085ORPHA1146392164731
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0001397HP:0006555Diffuse hepatic steatosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0001397HP:0006573Acute hepatic steatosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0001397HP:0001414Microvesicular hepatic steatosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0001397HP:0006555Diffuse hepatic steatosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM15525428606844
HP:0001397HP:0006573Acute hepatic steatosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM15525428606844
HP:0001397HP:0001414Microvesicular hepatic steatosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM15525428606844
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM15525428606844
HP:0001397HP:0001414Microvesicular hepatic steatosis1APOB CL E G H338391665ORPHA12916603107730
HP:0001397HP:0001403Macrovesicular hepatic steatosis1APOB CL E G H338391665ORPHA12916603107730
HP:0001397HP:0006555Diffuse hepatic steatosis1APOB CL E G H338391665ORPHA12916603107730
HP:0001397HP:0006573Acute hepatic steatosis1APOB CL E G H338391665ORPHA12916603107730
HP:0001397HP:0001414Microvesicular hepatic steatosis1APOE CL E G H348412ORPHA1166613107741
HP:0001397HP:0001403Macrovesicular hepatic steatosis1APOE CL E G H348412ORPHA1166613107741
HP:0001397HP:0006555Diffuse hepatic steatosis1APOE CL E G H348412ORPHA1166613107741
HP:0001397HP:0006573Acute hepatic steatosis1APOE CL E G H348412ORPHA1166613107741
HP:0001397HP:0006573Acute hepatic steatosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0001397HP:0001414Microvesicular hepatic steatosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0001397HP:0006555Diffuse hepatic steatosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1407868300197
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ATP7B CL E G H540905ORPHA12303870606882
HP:0001397HP:0006555Diffuse hepatic steatosis1ATP7B CL E G H540905ORPHA12303870606882
HP:0001397HP:0006573Acute hepatic steatosis1ATP7B CL E G H540905ORPHA12303870606882
HP:0001397HP:0001414Microvesicular hepatic steatosis1ATP7B CL E G H540905ORPHA12303870606882
HP:0001397HP:0006573Acute hepatic steatosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0001397HP:0001414Microvesicular hepatic steatosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0001397HP:0001403Macrovesicular hepatic steatosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0001397HP:0006555Diffuse hepatic steatosis1BCS1L CL E G H61753693ORPHA14131020603647
HP:0001397HP:0001414Microvesicular hepatic steatosis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001397HP:0001403Macrovesicular hepatic steatosis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001397HP:0006555Diffuse hepatic steatosis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001397HP:0006573Acute hepatic steatosis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001397HP:0001414Microvesicular hepatic steatosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001397HP:0001403Macrovesicular hepatic steatosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001397HP:0006555Diffuse hepatic steatosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001397HP:0006573Acute hepatic steatosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001397HP:0001414Microvesicular hepatic steatosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001397HP:0006555Diffuse hepatic steatosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001397HP:0006573Acute hepatic steatosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0001397HP:0006555Diffuse hepatic steatosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0001397HP:0006573Acute hepatic steatosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0001397HP:0001414Microvesicular hepatic steatosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0001397HP:0006555Diffuse hepatic steatosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM111201550613381
HP:0001397HP:0006573Acute hepatic steatosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM111201550613381
HP:0001397HP:0001414Microvesicular hepatic steatosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM111201550613381
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM111201550613381
HP:0001397HP:0001414Microvesicular hepatic steatosis1CIDEC CL E G H63924435651ORPHA19624229612120
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CIDEC CL E G H63924435651ORPHA19624229612120
HP:0001397HP:0006555Diffuse hepatic steatosis1CIDEC CL E G H63924435651ORPHA19624229612120
HP:0001397HP:0006573Acute hepatic steatosis1CIDEC CL E G H63924435651ORPHA19624229612120
HP:0001397HP:0001414Microvesicular hepatic steatosis1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM19624229612120
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM19624229612120
HP:0001397HP:0006555Diffuse hepatic steatosis1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM19624229612120
HP:0001397HP:0006573Acute hepatic steatosis1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM19624229612120
HP:0001397HP:0006573Acute hepatic steatosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001397HP:0001414Microvesicular hepatic steatosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001397HP:0001403Macrovesicular hepatic steatosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001397HP:0006555Diffuse hepatic steatosis1COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM13572263603646
HP:0001397HP:0001414Microvesicular hepatic steatosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001397HP:0006555Diffuse hepatic steatosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001397HP:0006573Acute hepatic steatosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001397HP:0006573Acute hepatic steatosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA14122594107910
HP:0001397HP:0001414Microvesicular hepatic steatosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA14122594107910
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA14122594107910
HP:0001397HP:0006555Diffuse hepatic steatosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA14122594107910
HP:0001397HP:0006573Acute hepatic steatosis1DDOST CL E G H1650300536ORPHA12532728602202
HP:0001397HP:0001414Microvesicular hepatic steatosis1DDOST CL E G H1650300536ORPHA12532728602202
HP:0001397HP:0001403Macrovesicular hepatic steatosis1DDOST CL E G H1650300536ORPHA12532728602202
HP:0001397HP:0006555Diffuse hepatic steatosis1DDOST CL E G H1650300536ORPHA12532728602202
HP:0001397HP:0006573Acute hepatic steatosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001397HP:0001414Microvesicular hepatic steatosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001397HP:0001403Macrovesicular hepatic steatosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001397HP:0006555Diffuse hepatic steatosis1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001397HP:0006573Acute hepatic steatosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001397HP:0001414Microvesicular hepatic steatosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001397HP:0006555Diffuse hepatic steatosis1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001397HP:0001414Microvesicular hepatic steatosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001397HP:0006555Diffuse hepatic steatosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001397HP:0006573Acute hepatic steatosis1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001397HP:0006555Diffuse hepatic steatosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001397HP:0006573Acute hepatic steatosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001397HP:0001414Microvesicular hepatic steatosis1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001397HP:0001414Microvesicular hepatic steatosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001397HP:0001403Macrovesicular hepatic steatosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001397HP:0006555Diffuse hepatic steatosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001397HP:0006573Acute hepatic steatosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001397HP:0006555Diffuse hepatic steatosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001397HP:0006573Acute hepatic steatosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001397HP:0001414Microvesicular hepatic steatosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001397HP:0001403Macrovesicular hepatic steatosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001397HP:0001414Microvesicular hepatic steatosis1HADH CL E G H303371212ORPHA12294799601609
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HADH CL E G H303371212ORPHA12294799601609
HP:0001397HP:0006555Diffuse hepatic steatosis1HADH CL E G H303371212ORPHA12294799601609
HP:0001397HP:0006573Acute hepatic steatosis1HADH CL E G H303371212ORPHA12294799601609
HP:0001397HP:0006555Diffuse hepatic steatosis1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001397HP:0006573Acute hepatic steatosis1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001397HP:0001414Microvesicular hepatic steatosis1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001397HP:0001414Microvesicular hepatic steatosis1HFE CL E G H3077465508ORPHA12374886613609
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HFE CL E G H3077465508ORPHA12374886613609
HP:0001397HP:0006555Diffuse hepatic steatosis1HFE CL E G H3077465508ORPHA12374886613609
HP:0001397HP:0006573Acute hepatic steatosis1HFE CL E G H3077465508ORPHA12374886613609
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM19835213601860
HP:0001397HP:0006555Diffuse hepatic steatosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM19835213601860
HP:0001397HP:0006573Acute hepatic steatosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM19835213601860
HP:0001397HP:0001414Microvesicular hepatic steatosis1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM19835213601860
HP:0001397HP:0006573Acute hepatic steatosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001397HP:0001414Microvesicular hepatic steatosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001397HP:0006555Diffuse hepatic steatosis1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LDLR CL E G H3949391665ORPHA138196547606945
HP:0001397HP:0006555Diffuse hepatic steatosis1LDLR CL E G H3949391665ORPHA138196547606945
HP:0001397HP:0006573Acute hepatic steatosis1LDLR CL E G H3949391665ORPHA138196547606945
HP:0001397HP:0001414Microvesicular hepatic steatosis1LDLR CL E G H3949391665ORPHA138196547606945
HP:0001397HP:0006555Diffuse hepatic steatosis1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0001397HP:0006573Acute hepatic steatosis1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0001397HP:0001414Microvesicular hepatic steatosis1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0001397HP:0006555Diffuse hepatic steatosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001397HP:0006573Acute hepatic steatosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001397HP:0001414Microvesicular hepatic steatosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LIPE CL E G H3991435660ORPHA11446621151750
HP:0001397HP:0006555Diffuse hepatic steatosis1LIPE CL E G H3991435660ORPHA11446621151750
HP:0001397HP:0001414Microvesicular hepatic steatosis1LIPE CL E G H3991435660ORPHA11446621151750
HP:0001397HP:0006573Acute hepatic steatosis1LIPE CL E G H3991435660ORPHA11446621151750
HP:0001397HP:0001414Microvesicular hepatic steatosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0001397HP:0006555Diffuse hepatic steatosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0001397HP:0006573Acute hepatic steatosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0001397HP:0006573Acute hepatic steatosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001397HP:0006555Diffuse hepatic steatosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H400079474ORPHA118146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H400079084ORPHA118146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H4000280365ORPHA118146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H400079474ORPHA118146636150330
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H400079084ORPHA118146636150330
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H4000280365ORPHA118146636150330
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H400079474ORPHA118146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H400079084ORPHA118146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H4000280365ORPHA118146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H400079474ORPHA118146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H400079084ORPHA118146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H4000280365ORPHA118146636150330
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM118146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM118146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM118146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM118146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0001397HP:0006555Diffuse hepatic steatosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0001397HP:0006573Acute hepatic steatosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0001397HP:0001414Microvesicular hepatic steatosis1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM116721365613311
HP:0001397HP:0001414Microvesicular hepatic steatosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001397HP:0001403Macrovesicular hepatic steatosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001397HP:0006555Diffuse hepatic steatosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001397HP:0006573Acute hepatic steatosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0001397HP:0001414Microvesicular hepatic steatosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0001397HP:0001403Macrovesicular hepatic steatosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0001397HP:0006555Diffuse hepatic steatosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0001397HP:0006573Acute hepatic steatosis1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0001397HP:0001414Microvesicular hepatic steatosis1NSMCE2 CL E G H286053436182ORPHA112126513617246
HP:0001397HP:0001403Macrovesicular hepatic steatosis1NSMCE2 CL E G H286053436182ORPHA112126513617246
HP:0001397HP:0006555Diffuse hepatic steatosis1NSMCE2 CL E G H286053436182ORPHA112126513617246
HP:0001397HP:0006573Acute hepatic steatosis1NSMCE2 CL E G H286053436182ORPHA112126513617246
HP:0001397HP:0006573Acute hepatic steatosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0001397HP:0001414Microvesicular hepatic steatosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0001397HP:0001403Macrovesicular hepatic steatosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0001397HP:0006555Diffuse hepatic steatosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0001397HP:0006573Acute hepatic steatosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0001397HP:0001414Microvesicular hepatic steatosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0001397HP:0006555Diffuse hepatic steatosis1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0001397HP:0006555Diffuse hepatic steatosis1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM11718725614095
HP:0001397HP:0006573Acute hepatic steatosis1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM11718725614095
HP:0001397HP:0001414Microvesicular hepatic steatosis1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM11718725614095
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PCK2 CL E G H5106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrial261650C1849821OMIM11718725614095
HP:0001397HP:0006573Acute hepatic steatosis1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0001397HP:0001414Microvesicular hepatic steatosis1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0001397HP:0006555Diffuse hepatic steatosis1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM14138905171900
HP:0001397HP:0006555Diffuse hepatic steatosis1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM14138905171900
HP:0001397HP:0006573Acute hepatic steatosis1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM14138905171900
HP:0001397HP:0001414Microvesicular hepatic steatosis1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM14138905171900
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001397HP:0006555Diffuse hepatic steatosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001397HP:0006573Acute hepatic steatosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001397HP:0001414Microvesicular hepatic steatosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001397HP:0006555Diffuse hepatic steatosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0001397HP:0006573Acute hepatic steatosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0001397HP:0001414Microvesicular hepatic steatosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0001397HP:0006573Acute hepatic steatosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001397HP:0001414Microvesicular hepatic steatosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001397HP:0006555Diffuse hepatic steatosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PNPLA2 CL E G H5710498908ORPHA156630802609059
HP:0001397HP:0006555Diffuse hepatic steatosis1PNPLA2 CL E G H5710498908ORPHA156630802609059
HP:0001397HP:0006573Acute hepatic steatosis1PNPLA2 CL E G H5710498908ORPHA156630802609059
HP:0001397HP:0001414Microvesicular hepatic steatosis1PNPLA2 CL E G H5710498908ORPHA156630802609059
HP:0001397HP:0006573Acute hepatic steatosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM156630802609059
HP:0001397HP:0001414Microvesicular hepatic steatosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM156630802609059
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM156630802609059
HP:0001397HP:0006555Diffuse hepatic steatosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM156630802609059
HP:0001397HP:0006555Diffuse hepatic steatosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0001397HP:0006573Acute hepatic steatosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0001397HP:0001414Microvesicular hepatic steatosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0001397HP:0001403Macrovesicular hepatic steatosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11669236601487
HP:0001397HP:0006555Diffuse hepatic steatosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11669236601487
HP:0001397HP:0006573Acute hepatic steatosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11669236601487
HP:0001397HP:0001414Microvesicular hepatic steatosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11669236601487
HP:0001397HP:0006555Diffuse hepatic steatosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001397HP:0006573Acute hepatic steatosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001397HP:0001414Microvesicular hepatic steatosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001397HP:0001403Macrovesicular hepatic steatosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0001397HP:0001414Microvesicular hepatic steatosis1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001397HP:0001403Macrovesicular hepatic steatosis1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001397HP:0006555Diffuse hepatic steatosis1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001397HP:0006573Acute hepatic steatosis1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001397HP:0001414Microvesicular hepatic steatosis1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM165510983603859
HP:0001397HP:0001403Macrovesicular hepatic steatosis1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM165510983603859
HP:0001397HP:0006555Diffuse hepatic steatosis1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM165510983603859
HP:0001397HP:0006573Acute hepatic steatosis1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM165510983603859
HP:0001397HP:0001414Microvesicular hepatic steatosis1SLC40A1 CL E G H30061139491ORPHA124410909604653
HP:0001397HP:0001403Macrovesicular hepatic steatosis1SLC40A1 CL E G H30061139491ORPHA124410909604653
HP:0001397HP:0006555Diffuse hepatic steatosis1SLC40A1 CL E G H30061139491ORPHA124410909604653
HP:0001397HP:0006573Acute hepatic steatosis1SLC40A1 CL E G H30061139491ORPHA124410909604653
HP:0001397HP:0006573Acute hepatic steatosis1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0001397HP:0001414Microvesicular hepatic steatosis1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0001397HP:0001403Macrovesicular hepatic steatosis1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0001397HP:0006555Diffuse hepatic steatosis1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0001397HP:0001403Macrovesicular hepatic steatosis1XRCC4 CL E G H7518436182ORPHA112912831194363
HP:0001397HP:0006555Diffuse hepatic steatosis1XRCC4 CL E G H7518436182ORPHA112912831194363
HP:0001397HP:0006573Acute hepatic steatosis1XRCC4 CL E G H7518436182ORPHA112912831194363
HP:0001397HP:0001414Microvesicular hepatic steatosis1XRCC4 CL E G H7518436182ORPHA112912831194363
HP:0001397HP:0001414Microvesicular hepatic steatosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0001397HP:0006555Diffuse hepatic steatosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
HP:0001397HP:0006573Acute hepatic steatosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001397HP:0001397Hepatic steatosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0001397HP:0001397Hepatic steatosis0ALMS1 CL E G H784064ORPHA05525428606844
HP:0001397HP:0001397Hepatic steatosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0001397HP:0001397Hepatic steatosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0001397HP:0001397Hepatic steatosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0001397HP:0001397Hepatic steatosis0CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM020228209615586
HP:0001397HP:0001397Hepatic steatosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0001397HP:0001397Hepatic steatosis0GABRD CL E G H25631606ORPHA04744084137163
HP:0001397HP:0001397Hepatic steatosis0HNF1B CL E G H692893111ORPHA069711630189907
HP:0001397HP:0001397Hepatic steatosis0HNF4A CL E G H317293111ORPHA05095024600281
HP:0001397HP:0001397Hepatic steatosis0HNRNPA1 CL E G H317852430ORPHA0805031164017
HP:0001397HP:0001397Hepatic steatosis0HNRNPA2B1 CL E G H318152430ORPHA02955033600124
HP:0001397HP:0001397Hepatic steatosis0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001397HP:0001397Hepatic steatosis0KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0001397HP:0001397Hepatic steatosis0LMNA CL E G H40002348ORPHA018146636150330
HP:0001397HP:0001397Hepatic steatosis0LMNB2 CL E G H8482379087ORPHA05486638150341
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H546879083ORPHA01669236601487
HP:0001397HP:0001397Hepatic steatosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0001397HP:0001397Hepatic steatosis0PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0001397HP:0001397Hepatic steatosis0RERE CL E G H4731606ORPHA06599965605226
HP:0001397HP:0001397Hepatic steatosis0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA014010535607690
HP:0001397HP:0001397Hepatic steatosis0SKI CL E G H64971606ORPHA0106210896164780
HP:0001397HP:0001397Hepatic steatosis0TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM08218085616815
HP:0001397HP:0001397Hepatic steatosis0TRAPPC11 CL E G H60684369840ORPHA098325751614138
HP:0001397HP:0001397Hepatic steatosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM098325751614138
HP:0001397HP:0001397Hepatic steatosis0VCP CL E G H741552430ORPHA060712666601023
HP:0001397HP:0001403Macrovesicular hepatic steatosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0001397HP:0006555Diffuse hepatic steatosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0001397HP:0006573Acute hepatic steatosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0001397HP:0001414Microvesicular hepatic steatosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0001397HP:0001403Macrovesicular hepatic steatosis1ALMS1 CL E G H784064ORPHA05525428606844
HP:0001397HP:0006555Diffuse hepatic steatosis1ALMS1 CL E G H784064ORPHA05525428606844
HP:0001397HP:0006573Acute hepatic steatosis1ALMS1 CL E G H784064ORPHA05525428606844
HP:0001397HP:0001414Microvesicular hepatic steatosis1ALMS1 CL E G H784064ORPHA05525428606844
HP:0001397HP:0006555Diffuse hepatic steatosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0001397HP:0006573Acute hepatic steatosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0001397HP:0001414Microvesicular hepatic steatosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0001397HP:0001403Macrovesicular hepatic steatosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0001397HP:0006573Acute hepatic steatosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0001397HP:0001414Microvesicular hepatic steatosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0001397HP:0006555Diffuse hepatic steatosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0001397HP:0001414Microvesicular hepatic steatosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0001397HP:0006555Diffuse hepatic steatosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0001397HP:0006573Acute hepatic steatosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0001397HP:0006555Diffuse hepatic steatosis1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM020228209615586
HP:0001397HP:0006573Acute hepatic steatosis1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM020228209615586
HP:0001397HP:0001414Microvesicular hepatic steatosis1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM020228209615586
HP:0001397HP:0001403Macrovesicular hepatic steatosis1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM020228209615586
HP:0001397HP:0001403Macrovesicular hepatic steatosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0001397HP:0006555Diffuse hepatic steatosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0001397HP:0006573Acute hepatic steatosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0001397HP:0001414Microvesicular hepatic steatosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0001397HP:0006555Diffuse hepatic steatosis1GABRD CL E G H25631606ORPHA04744084137163
HP:0001397HP:0006573Acute hepatic steatosis1GABRD CL E G H25631606ORPHA04744084137163
HP:0001397HP:0001414Microvesicular hepatic steatosis1GABRD CL E G H25631606ORPHA04744084137163
HP:0001397HP:0001403Macrovesicular hepatic steatosis1GABRD CL E G H25631606ORPHA04744084137163
HP:0001397HP:0006555Diffuse hepatic steatosis1HNF1B CL E G H692893111ORPHA069711630189907
HP:0001397HP:0006573Acute hepatic steatosis1HNF1B CL E G H692893111ORPHA069711630189907
HP:0001397HP:0001414Microvesicular hepatic steatosis1HNF1B CL E G H692893111ORPHA069711630189907
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HNF1B CL E G H692893111ORPHA069711630189907
HP:0001397HP:0006573Acute hepatic steatosis1HNF4A CL E G H317293111ORPHA05095024600281
HP:0001397HP:0001414Microvesicular hepatic steatosis1HNF4A CL E G H317293111ORPHA05095024600281
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HNF4A CL E G H317293111ORPHA05095024600281
HP:0001397HP:0006555Diffuse hepatic steatosis1HNF4A CL E G H317293111ORPHA05095024600281
HP:0001397HP:0001414Microvesicular hepatic steatosis1HNRNPA1 CL E G H317852430ORPHA0805031164017
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HNRNPA1 CL E G H317852430ORPHA0805031164017
HP:0001397HP:0006555Diffuse hepatic steatosis1HNRNPA1 CL E G H317852430ORPHA0805031164017
HP:0001397HP:0006573Acute hepatic steatosis1HNRNPA1 CL E G H317852430ORPHA0805031164017
HP:0001397HP:0001403Macrovesicular hepatic steatosis1HNRNPA2B1 CL E G H318152430ORPHA02955033600124
HP:0001397HP:0006555Diffuse hepatic steatosis1HNRNPA2B1 CL E G H318152430ORPHA02955033600124
HP:0001397HP:0006573Acute hepatic steatosis1HNRNPA2B1 CL E G H318152430ORPHA02955033600124
HP:0001397HP:0001414Microvesicular hepatic steatosis1HNRNPA2B1 CL E G H318152430ORPHA02955033600124
HP:0001397HP:0006555Diffuse hepatic steatosis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001397HP:0006573Acute hepatic steatosis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001397HP:0001414Microvesicular hepatic steatosis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001397HP:0001403Macrovesicular hepatic steatosis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001397HP:0006573Acute hepatic steatosis1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0001397HP:0001414Microvesicular hepatic steatosis1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0001397HP:0001403Macrovesicular hepatic steatosis1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0001397HP:0006555Diffuse hepatic steatosis1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0001397HP:0006573Acute hepatic steatosis1LMNA CL E G H40002348ORPHA018146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNA CL E G H40002348ORPHA018146636150330
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNA CL E G H40002348ORPHA018146636150330
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNA CL E G H40002348ORPHA018146636150330
HP:0001397HP:0001414Microvesicular hepatic steatosis1LMNB2 CL E G H8482379087ORPHA05486638150341
HP:0001397HP:0001403Macrovesicular hepatic steatosis1LMNB2 CL E G H8482379087ORPHA05486638150341
HP:0001397HP:0006555Diffuse hepatic steatosis1LMNB2 CL E G H8482379087ORPHA05486638150341
HP:0001397HP:0006573Acute hepatic steatosis1LMNB2 CL E G H8482379087ORPHA05486638150341
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PPARG CL E G H546879083ORPHA01669236601487
HP:0001397HP:0006555Diffuse hepatic steatosis1PPARG CL E G H546879083ORPHA01669236601487
HP:0001397HP:0006573Acute hepatic steatosis1PPARG CL E G H546879083ORPHA01669236601487
HP:0001397HP:0001414Microvesicular hepatic steatosis1PPARG CL E G H546879083ORPHA01669236601487
HP:0001397HP:0006555Diffuse hepatic steatosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0001397HP:0006573Acute hepatic steatosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0001397HP:0001414Microvesicular hepatic steatosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0001397HP:0001414Microvesicular hepatic steatosis1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0001397HP:0001403Macrovesicular hepatic steatosis1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0001397HP:0006555Diffuse hepatic steatosis1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0001397HP:0006573Acute hepatic steatosis1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0001397HP:0001403Macrovesicular hepatic steatosis1RERE CL E G H4731606ORPHA06599965605226
HP:0001397HP:0006555Diffuse hepatic steatosis1RERE CL E G H4731606ORPHA06599965605226
HP:0001397HP:0006573Acute hepatic steatosis1RERE CL E G H4731606ORPHA06599965605226
HP:0001397HP:0001414Microvesicular hepatic steatosis1RERE CL E G H4731606ORPHA06599965605226
HP:0001397HP:0006555Diffuse hepatic steatosis1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA014010535607690
HP:0001397HP:0006573Acute hepatic steatosis1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA014010535607690
HP:0001397HP:0001414Microvesicular hepatic steatosis1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA014010535607690
HP:0001397HP:0001403Macrovesicular hepatic steatosis1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA014010535607690
HP:0001397HP:0006555Diffuse hepatic steatosis1SKI CL E G H64971606ORPHA0106210896164780
HP:0001397HP:0006573Acute hepatic steatosis1SKI CL E G H64971606ORPHA0106210896164780
HP:0001397HP:0001414Microvesicular hepatic steatosis1SKI CL E G H64971606ORPHA0106210896164780
HP:0001397HP:0001403Macrovesicular hepatic steatosis1SKI CL E G H64971606ORPHA0106210896164780
HP:0001397HP:0001403Macrovesicular hepatic steatosis1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM08218085616815
HP:0001397HP:0006555Diffuse hepatic steatosis1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM08218085616815
HP:0001397HP:0006573Acute hepatic steatosis1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM08218085616815
HP:0001397HP:0001414Microvesicular hepatic steatosis1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM08218085616815
HP:0001397HP:0001403Macrovesicular hepatic steatosis1TRAPPC11 CL E G H60684369840ORPHA098325751614138
HP:0001397HP:0006555Diffuse hepatic steatosis1TRAPPC11 CL E G H60684369840ORPHA098325751614138
HP:0001397HP:0006573Acute hepatic steatosis1TRAPPC11 CL E G H60684369840ORPHA098325751614138
HP:0001397HP:0001414Microvesicular hepatic steatosis1TRAPPC11 CL E G H60684369840ORPHA098325751614138
HP:0001397HP:0001403Macrovesicular hepatic steatosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM098325751614138
HP:0001397HP:0006555Diffuse hepatic steatosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM098325751614138
HP:0001397HP:0006573Acute hepatic steatosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM098325751614138
HP:0001397HP:0001414Microvesicular hepatic steatosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM098325751614138
HP:0001397HP:0006555Diffuse hepatic steatosis1VCP CL E G H741552430ORPHA060712666601023
HP:0001397HP:0006573Acute hepatic steatosis1VCP CL E G H741552430ORPHA060712666601023
HP:0001397HP:0001414Microvesicular hepatic steatosis1VCP CL E G H741552430ORPHA060712666601023
HP:0001397HP:0001403Macrovesicular hepatic steatosis1VCP CL E G H741552430ORPHA060712666601023


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 280365 79084 2348 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 August 2021 release.