Human Phenotype Ontology 
Grandparent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Storage in hepatocytes (HP:0031137)help
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Lipid accumulation in hepatocytes (HP:0006561)help
Term ID: 6561
Name: Lipid accumulation in hepatocytes
Synonym:
Definition:
Comments:
Reference: HP:0006561
Genes and Diseases:
 
       Child Nodes:
........expandHepatic steatosis (HP:0001397) help
................... HP:0001403 Macrovesicular hepatic steatosis
................... HP:0001414 Microvesicular hepatic steatosis
................... HP:0006555 Diffuse hepatic steatosis
................... HP:0006573 Acute hepatic steatosis
........expandIncreased hepatocellular lipid droplets (HP:0006565) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemia67
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemia76
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of197
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency90
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0006561HP:0006561Lipid accumulation in hepatocytes0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0006561HP:0006561Lipid accumulation in hepatocytes0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0006561HP:0006561Lipid accumulation in hepatocytes0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0006561HP:0006561Lipid accumulation in hepatocytes0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary73
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0006561HP:0006561Lipid accumulation in hepatocytes0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemia356
HP:0006561HP:0006561Lipid accumulation in hepatocytes0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BCS1L CL E G H6171020ORPHA:53693GRACILE syndrome72
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0006561HP:0006561Lipid accumulation in hepatocytes0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0006561HP:0006561Lipid accumulation in hepatocytes0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0006561HP:0006561Lipid accumulation in hepatocytes0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6104
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency99
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0006561HP:0006561Lipid accumulation in hepatocytes0CYP7A1 CL E G H15812651ORPHA:209902Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency11
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0006561HP:0006561Lipid accumulation in hepatocytes0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0006561HP:0006561Lipid accumulation in hepatocytes0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0006561HP:0006561Lipid accumulation in hepatocytes0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0006561HP:0006561Lipid accumulation in hepatocytes0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0006561HP:0006561Lipid accumulation in hepatocytes0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0006561HP:0006561Lipid accumulation in hepatocytes0FOCAD CL E G H5491423377OMIM:6199913
HP:0006561HP:0006561Lipid accumulation in hepatocytes0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0006561HP:0006561Lipid accumulation in hepatocytes0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0006561HP:0006561Lipid accumulation in hepatocytes0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006561HP:0006561Lipid accumulation in hepatocytes0GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile3
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040282 - Frequent35
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease90
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0006561HP:0006561Lipid accumulation in hepatocytes0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0006561HP:0006561Lipid accumulation in hepatocytes0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0006561HP:0006561Lipid accumulation in hepatocytes0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0006561HP:0006561Lipid accumulation in hepatocytes0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0KMT2B CL E G H975715840OMIM:61993411
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemia2157
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemia73
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan type645
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophy11
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type191
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 1613
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0006561HP:0006561Lipid accumulation in hepatocytes0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 1140
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome2
HP:0006561HP:0006561Lipid accumulation in hepatocytes0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic53
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial6
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemia178
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0006561HP:0006561Lipid accumulation in hepatocytes0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0006561HP:0006561Lipid accumulation in hepatocytes0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0006561HP:0006561Lipid accumulation in hepatocytes0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0006561HP:0006561Lipid accumulation in hepatocytes0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0006561HP:0006561Lipid accumulation in hepatocytes0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0006561HP:0006561Lipid accumulation in hepatocytes0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0006561HP:0006561Lipid accumulation in hepatocytes0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0006561HP:0006561Lipid accumulation in hepatocytes0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006561HP:0006561Lipid accumulation in hepatocytes0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SAR1B CL E G H5112810535ORPHA:71Chylomicron retention disease8
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type II82
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset82
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiency82
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 456
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0006561HP:0006561Lipid accumulation in hepatocytes0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 2128
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIP4
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0006561HP:0006561Lipid accumulation in hepatocytes0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0006561HP:0006561Lipid accumulation in hepatocytes0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0006561HP:0006561Lipid accumulation in hepatocytes0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0006561HP:0006561Lipid accumulation in hepatocytes0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0006561HP:0006561Lipid accumulation in hepatocytes0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0006561HP:0006561Lipid accumulation in hepatocytes0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome9
HP:0006561HP:0006561Lipid accumulation in hepatocytes0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0006561HP:0006561Lipid accumulation in hepatocytes0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0006561HP:0001397Hepatic steatosis1ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent67
HP:0006561HP:0001397Hepatic steatosis1ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent76
HP:0006561HP:0001397Hepatic steatosis1ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0006561HP:0001397Hepatic steatosis1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0006561HP:0001397Hepatic steatosis1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0006561HP:0001397Hepatic steatosis1ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0006561HP:0001397Hepatic steatosis1ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0006561HP:0001397Hepatic steatosis1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0006561HP:0001397Hepatic steatosis1ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional90
HP:0006561HP:0001397Hepatic steatosis1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0006561HP:0001397Hepatic steatosis1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0006561HP:0001397Hepatic steatosis1ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0006561HP:0001397Hepatic steatosis1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0006561HP:0001397Hepatic steatosis1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0006561HP:0001397Hepatic steatosis1AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0006561HP:0001397Hepatic steatosis1AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040281 - Very frequent12
HP:0006561HP:0001397Hepatic steatosis1ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0006561HP:0001397Hepatic steatosis1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0006561HP:0001397Hepatic steatosis1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0006561HP:0001397Hepatic steatosis1APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent356
HP:0006561HP:0001397Hepatic steatosis1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0006561HP:0001397Hepatic steatosis1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0006561HP:0001397Hepatic steatosis1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0006561HP:0001397Hepatic steatosis1ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0006561HP:0001397Hepatic steatosis1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0006561HP:0001397Hepatic steatosis1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0006561HP:0001397Hepatic steatosis1BCS1L CL E G H6171020ORPHA:53693GRACILE syndromeHP:0040281 - Very frequent72
HP:0006561HP:0001397Hepatic steatosis1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0006561HP:0001397Hepatic steatosis1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0006561HP:0001397Hepatic steatosis1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0006561HP:0001397Hepatic steatosis1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0006561HP:0001397Hepatic steatosis1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0006561HP:0001397Hepatic steatosis1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0006561HP:0001397Hepatic steatosis1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0006561HP:0001397Hepatic steatosis1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0006561HP:0001397Hepatic steatosis1CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0006561HP:0001397Hepatic steatosis1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0006561HP:0001397Hepatic steatosis1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0006561HP:0001397Hepatic steatosis1CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0006561HP:0001397Hepatic steatosis1CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0006561HP:0001397Hepatic steatosis1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0006561HP:0001397Hepatic steatosis1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 5.8
HP:0006561HP:0001397Hepatic steatosis1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040283 - Occasional38
HP:0006561HP:0001397Hepatic steatosis1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0006561HP:0001397Hepatic steatosis1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0006561HP:0001397Hepatic steatosis1COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0006561HP:0001397Hepatic steatosis1CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0006561HP:0001397Hepatic steatosis1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0006561HP:0001397Hepatic steatosis1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0006561HP:0001397Hepatic steatosis1CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0006561HP:0001397Hepatic steatosis1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0006561HP:0001397Hepatic steatosis1CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040282 - Frequent60
HP:0006561HP:0001397Hepatic steatosis1CYP7A1 CL E G H15812651ORPHA:209902Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyHP:0040281 - Very frequent11
HP:0006561HP:0001397Hepatic steatosis1DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0006561HP:0001397Hepatic steatosis1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0006561HP:0001397Hepatic steatosis1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0006561HP:0001397Hepatic steatosis1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006561HP:0001397Hepatic steatosis1DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0006561HP:0001397Hepatic steatosis1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0006561HP:0001397Hepatic steatosis1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0006561HP:0001397Hepatic steatosis1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0006561HP:0001397Hepatic steatosis1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0006561HP:0001397Hepatic steatosis1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0006561HP:0001397Hepatic steatosis1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0006561HP:0001397Hepatic steatosis1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0006561HP:0001397Hepatic steatosis1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0006561HP:0001397Hepatic steatosis1FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0006561HP:0001397Hepatic steatosis1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0006561HP:0001397Hepatic steatosis1FOCAD CL E G H5491423377OMIM:6199913
HP:0006561HP:0001397Hepatic steatosis1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0006561HP:0001397Hepatic steatosis1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0006561HP:0001397Hepatic steatosis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006561HP:0001397Hepatic steatosis1GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile.3
HP:0006561HP:0001397Hepatic steatosis1HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0006561HP:0001397Hepatic steatosis1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0006561HP:0001397Hepatic steatosis1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0006561HP:0001397Hepatic steatosis1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0006561HP:0001397Hepatic steatosis1HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0006561HP:0001397Hepatic steatosis1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0006561HP:0001397Hepatic steatosis1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0006561HP:0001397Hepatic steatosis1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0006561HP:0001397Hepatic steatosis1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0006561HP:0001397Hepatic steatosis1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040282 - Frequent
HP:0006561HP:0001397Hepatic steatosis1IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathyHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0006561HP:0001397Hepatic steatosis1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0006561HP:0001397Hepatic steatosis1KMT2B CL E G H975715840OMIM:61993411
HP:0006561HP:0001397Hepatic steatosis1LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1.
HP:0006561HP:0001397Hepatic steatosis1LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent2157
HP:0006561HP:0001397Hepatic steatosis1LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent73
HP:0006561HP:0001397Hepatic steatosis1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0006561HP:0001397Hepatic steatosis1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0006561HP:0001397Hepatic steatosis1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0006561HP:0001397Hepatic steatosis1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6.7
HP:0006561HP:0001397Hepatic steatosis1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0006561HP:0001397Hepatic steatosis1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0006561HP:0001397Hepatic steatosis1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0006561HP:0001397Hepatic steatosis1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040282 - Frequent645
HP:0006561HP:0001397Hepatic steatosis1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0006561HP:0001397Hepatic steatosis1LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040283 - Occasional11
HP:0006561HP:0001397Hepatic steatosis1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0006561HP:0006565Increased hepatocellular lipid droplets1LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0006561HP:0001397Hepatic steatosis1LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type191
HP:0006561HP:0001397Hepatic steatosis1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 19.4
HP:0006561HP:0001397Hepatic steatosis1MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0006561HP:0001397Hepatic steatosis1MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0006561HP:0001397Hepatic steatosis1MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0006561HP:0001397Hepatic steatosis1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0006561HP:0001397Hepatic steatosis1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0006561HP:0001397Hepatic steatosis1MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0006561HP:0001397Hepatic steatosis1MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 1613
HP:0006561HP:0001397Hepatic steatosis1MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0006561HP:0001397Hepatic steatosis1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0006561HP:0001397Hepatic steatosis1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006561HP:0001397Hepatic steatosis1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0006561HP:0001397Hepatic steatosis1NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 1140
HP:0006561HP:0001397Hepatic steatosis1NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0006561HP:0001397Hepatic steatosis1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0006561HP:0001397Hepatic steatosis1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0006561HP:0001397Hepatic steatosis1NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent2
HP:0006561HP:0001397Hepatic steatosis1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0006561HP:0001397Hepatic steatosis1PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0006561HP:0001397Hepatic steatosis1PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial.6
HP:0006561HP:0001397Hepatic steatosis1PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent178
HP:0006561HP:0001397Hepatic steatosis1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0006561HP:0001397Hepatic steatosis1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0006561HP:0001397Hepatic steatosis1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0006561HP:0001397Hepatic steatosis1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0006561HP:0001397Hepatic steatosis1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0006561HP:0001397Hepatic steatosis1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0006561HP:0001397Hepatic steatosis1PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0006561HP:0001397Hepatic steatosis1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0006561HP:0001397Hepatic steatosis1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0006561HP:0001397Hepatic steatosis1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0006561HP:0001397Hepatic steatosis1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0006561HP:0001397Hepatic steatosis1POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0006561HP:0001397Hepatic steatosis1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0006561HP:0001397Hepatic steatosis1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0006561HP:0001397Hepatic steatosis1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0006561HP:0001397Hepatic steatosis1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0006561HP:0001397Hepatic steatosis1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0006561HP:0001397Hepatic steatosis1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0006561HP:0001397Hepatic steatosis1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0006561HP:0001397Hepatic steatosis1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0006561HP:0001397Hepatic steatosis1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0006561HP:0001397Hepatic steatosis1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0006561HP:0001397Hepatic steatosis1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0006561HP:0001397Hepatic steatosis1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0006561HP:0001397Hepatic steatosis1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0006561HP:0001397Hepatic steatosis1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006561HP:0001397Hepatic steatosis1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0006561HP:0006565Increased hepatocellular lipid droplets1SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040282 - Frequent8
HP:0006561HP:0001397Hepatic steatosis1SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040283 - Occasional8
HP:0006561HP:0001397Hepatic steatosis1SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0006561HP:0001397Hepatic steatosis1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0006561HP:0001397Hepatic steatosis1SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0006561HP:0001397Hepatic steatosis1SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040281 - Very frequent82
HP:0006561HP:0001397Hepatic steatosis1SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0006561HP:0001397Hepatic steatosis1SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0006561HP:0001397Hepatic steatosis1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0006561HP:0001397Hepatic steatosis1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0006561HP:0001397Hepatic steatosis1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0006561HP:0001397Hepatic steatosis1SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 4HP:0040282 - Frequent56
HP:0006561HP:0001397Hepatic steatosis1SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0006561HP:0001397Hepatic steatosis1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0006561HP:0001397Hepatic steatosis1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006561HP:0001397Hepatic steatosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0006561HP:0006565Increased hepatocellular lipid droplets1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0006561HP:0001397Hepatic steatosis1TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 21.28
HP:0006561HP:0001397Hepatic steatosis1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0006561HP:0001397Hepatic steatosis1TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1
HP:0006561HP:0001397Hepatic steatosis1TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0006561HP:0001397Hepatic steatosis1TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIP4
HP:0006561HP:0001397Hepatic steatosis1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040283 - Occasional27
HP:0006561HP:0001397Hepatic steatosis1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0006561HP:0001397Hepatic steatosis1TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0006561HP:0006565Increased hepatocellular lipid droplets1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0006561HP:0006565Increased hepatocellular lipid droplets1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0006561HP:0001397Hepatic steatosis1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0006561HP:0001397Hepatic steatosis1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006561HP:0001397Hepatic steatosis1UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0006561HP:0001397Hepatic steatosis1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0006561HP:0001397Hepatic steatosis1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0006561HP:0001397Hepatic steatosis1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0006561HP:0001397Hepatic steatosis1XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent9
HP:0006561HP:0001397Hepatic steatosis1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0006561HP:0001397Hepatic steatosis1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0006561HP:0001414Microvesicular hepatic steatosis2ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0006561HP:0006555Diffuse hepatic steatosis2ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0006561HP:0001414Microvesicular hepatic steatosis2BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0006561HP:0001414Microvesicular hepatic steatosis2CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0006561HP:0006555Diffuse hepatic steatosis2COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0006561HP:0001403Macrovesicular hepatic steatosis2CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile.101
HP:0006561HP:0001403Macrovesicular hepatic steatosis2CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0006561HP:0006573Acute hepatic steatosis2CYP7A1 CL E G H15812651ORPHA:209902Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyHP:0040281 - Very frequent11
HP:0006561HP:0001403Macrovesicular hepatic steatosis2CYP7A1 CL E G H15812651ORPHA:209902Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyHP:0040281 - Very frequent11
HP:0006561HP:0001414Microvesicular hepatic steatosis2DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0006561HP:0001414Microvesicular hepatic steatosis2DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0006561HP:0001403Macrovesicular hepatic steatosis2DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0006561HP:0001403Macrovesicular hepatic steatosis2EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12HP:0040283 - Occasional80
HP:0006561HP:0006555Diffuse hepatic steatosis2HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0006561HP:0006555Diffuse hepatic steatosis2HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0006561HP:0001403Macrovesicular hepatic steatosis2LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0006561HP:0001414Microvesicular hepatic steatosis2LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0006561HP:0001403Macrovesicular hepatic steatosis2LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0006561HP:0001414Microvesicular hepatic steatosis2LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0006561HP:0006573Acute hepatic steatosis2MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0006561HP:0001403Macrovesicular hepatic steatosis2MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0006561HP:0001403Macrovesicular hepatic steatosis2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0006561HP:0001414Microvesicular hepatic steatosis2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0006561HP:0001414Microvesicular hepatic steatosis2MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 16.13
HP:0006561HP:0001403Macrovesicular hepatic steatosis2MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006561HP:0001414Microvesicular hepatic steatosis2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0006561HP:0001403Macrovesicular hepatic steatosis2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0006561HP:0001403Macrovesicular hepatic steatosis2NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0006561HP:0001414Microvesicular hepatic steatosis2NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0006561HP:0001414Microvesicular hepatic steatosis2NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0006561HP:0001414Microvesicular hepatic steatosis2PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0006561HP:0001414Microvesicular hepatic steatosis2POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0006561HP:0001403Macrovesicular hepatic steatosis2POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0006561HP:0001403Macrovesicular hepatic steatosis2RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0006561HP:0001414Microvesicular hepatic steatosis2SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0006561HP:0001414Microvesicular hepatic steatosis2TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0006561HP:0001403Macrovesicular hepatic steatosis2TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0006561HP:0001414Microvesicular hepatic steatosis2TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0006561HP:0001403Macrovesicular hepatic steatosis2TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0006561HP:0001414Microvesicular hepatic steatosis2UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0006561HP:0001403Macrovesicular hepatic steatosis2VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0006561HP:0001414Microvesicular hepatic steatosis2VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0006561HP:0001414Microvesicular hepatic steatosis2YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2


Genes (154) :ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACOX1 ADK AGPAT2 AKR1D1 AKT2 ALDOB ALMS1 APOB APOE ARMC5 ATP6AP1 ATP6AP2 ATP7B BCS1L BLM BSCL2 CARS2 CASZ1 CAV1 CAVIN1 CBS CEP19 CIDEC CLPB COA8 COX15 CPT1A CPT2 CYP19A1 CYP7A1 DDOST DEF6 DGUOK DHCR7 DNAJC19 DOCK2 DPM1 EARS2 ETFA ETFB ETFDH FARSA FARSB FBP1 FOCAD FOS GABRD GNAS GNB2 GPD1 HADH HADHA HADHB HMGCL HNF1B HNRNPA1 HNRNPA2B1 HSD17B4 HSPG2 IARS1 IFIH1 KCNAB2 KMT2B LARS1 LDLR LDLRAP1 LIG3 LIPA LIPE LMNA LMNB2 LRPPRC LUZP1 LYRM4 MARS1 MCCC1 MICOS13 MMP23B MPV17 MRPL3 MRPL44 MRPS7 MTTP MTX2 NAA10 NDUFAF1 NFS1 NGLY1 NHLRC2 NSMCE2 PCK1 PCK2 PCSK9 PDE11A PDE8B PDPN PGM1 PHKA2 PHKG2 PIGA PLIN1 PMM2 PNPLA2 POLD1 POLG POLR3A PPARG PRDM16 PRKACA PRKAR1A PRKCZ PTRH2 RERE RINT1 RMND1 RNU7-1 RRM2B SAR1B SCO1 SKI SLC22A5 SLC25A13 SLC25A20 SLC37A4 SLC40A1 SPEN SPTBN1 SUCLG1 SURF1 TARS2 TBX1 TFAM TKFC TMEM199 TRAPPC11 TRMU TRNN TRNS1 TYMP UBE4B UNC45A VCP VPS33A VPS4A XRCC4 YARS1 ZPR1

Diseases (153) :ORPHA:391665 OMIM:275630 ORPHA:98907 ORPHA:99901 OMIM:611126 OMIM:201450 ORPHA:42 ORPHA:26792 OMIM:201475 OMIM:264470 OMIM:614300 ORPHA:528 OMIM:608594 ORPHA:79303 ORPHA:79085 OMIM:229600 ORPHA:64 OMIM:203800 ORPHA:412 ORPHA:189427 OMIM:300972 OMIM:301045 OMIM:277900 ORPHA:905 ORPHA:53693 OMIM:124000 OMIM:210900 OMIM:269700 ORPHA:363400 OMIM:616672 ORPHA:1606 OMIM:612526 OMIM:613327 OMIM:236200 OMIM:615703 ORPHA:435651 OMIM:615238 ORPHA:445038 OMIM:616271 ORPHA:436271 OMIM:615119 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 ORPHA:91 ORPHA:209902 ORPHA:300536 OMIM:619573 OMIM:251880 OMIM:270400 OMIM:610198 ORPHA:66634 OMIM:616433 ORPHA:79322 OMIM:614924 OMIM:231680 OMIM:619013 OMIM:613658 ORPHA:348 OMIM:619991 OMIM:619503 OMIM:614480 OMIM:231530 ORPHA:71212 ORPHA:746 ORPHA:20 ORPHA:93111 ORPHA:52430 OMIM:261515 ORPHA:541423 OMIM:617093 OMIM:615846 OMIM:619934 OMIM:615438 ORPHA:298 OMIM:278000 ORPHA:435660 OMIM:615980 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 ORPHA:79087 ORPHA:70472 OMIM:220111 OMIM:615595 OMIM:615486 OMIM:210200 OMIM:618329 OMIM:618400 OMIM:256810 OMIM:614582 OMIM:615395 OMIM:617872 ORPHA:14 OMIM:619127 OMIM:300855 OMIM:618234 OMIM:619386 ORPHA:404454 OMIM:618278 ORPHA:436182 OMIM:617253 OMIM:261680 OMIM:261650 ORPHA:189439 OMIM:614921 ORPHA:264580 OMIM:300868 OMIM:613877 ORPHA:280356 OMIM:212065 OMIM:610717 ORPHA:98908 OMIM:615381 OMIM:203700 ORPHA:3455 OMIM:604367 ORPHA:79083 OMIM:616263 OMIM:618641 OMIM:614922 OMIM:619487 ORPHA:71 OMIM:619048 OMIM:212140 ORPHA:247585 OMIM:603471 ORPHA:247598 OMIM:212138 OMIM:619525 ORPHA:79259 ORPHA:139491 OMIM:606069 OMIM:619475 ORPHA:17 OMIM:220110 OMIM:615918 OMIM:188400 OMIM:617156 OMIM:618805 OMIM:616829 OMIM:615356 ORPHA:369840 OMIM:613070 OMIM:619377 OMIM:617303 OMIM:619273 OMIM:619418 OMIM:619321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.