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ONTOLOGY REPORT - ANNOTATIONS


Term:Hepatic steatosis
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Accession:HP:0001397 term browser browse the term
Definition:The presence of steatosis in the liver.
Comment:Steatosis refers to an abnormal accumulation of lipids within a cell or tissue.
Synonyms:exact_synonym: Fatty infiltration of liver;   Fatty liver;   Liver steatosis;   Steatosis
 alt_id: HP:0002252;   HP:0200121
 xref: MSH:D005234;   SNOMEDCT_US:197321007;   SNOMEDCT_US:442191002;   UMLS:C2711227


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Hepatic steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG5 ATP binding cassette subfamily G member 5 JBrowse link 2 43,806,154 43,838,840 RGD:8699517
G ABCG8 ATP binding cassette subfamily G member 8 JBrowse link 2 43,831,942 43,882,988 RGD:8699517
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 43,690,870 43,734,371 RGD:8699517
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8699517
G ACADL acyl-CoA dehydrogenase long chain JBrowse link 2 210,187,923 210,225,447 RGD:8699517
G ACADM acyl-CoA dehydrogenase medium chain JBrowse link 1 75,724,347 75,763,679 RGD:8699517
G ACADVL acyl-CoA dehydrogenase very long chain JBrowse link 17 7,217,125 7,225,267 RGD:8699517
G ADK adenosine kinase JBrowse link 10 74,151,185 74,709,303 RGD:8699517
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,673,143 136,687,457 RGD:8699517
G AKT2 AKT serine/threonine kinase 2 JBrowse link 19 40,230,317 40,285,531 RGD:8699517
G ALDOB aldolase, fructose-bisphosphate B JBrowse link 9 101,420,560 101,435,774 RGD:8699517
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 2 73,385,758 73,609,919 RGD:8699517
G APOB apolipoprotein B JBrowse link 2 21,001,429 21,044,073 RGD:8699517
G APOE apolipoprotein E JBrowse link 19 44,905,796 44,909,395 RGD:8699517
G ATP6AP1 ATPase H+ transporting accessory protein 1 JBrowse link X 154,428,669 154,436,516 RGD:8699517
G ATP7B ATPase copper transporting beta JBrowse link 13 51,932,669 52,012,130 RGD:8699517
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 2 218,659,683 218,663,443 RGD:8699517
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8699517
G CAV1 caveolin 1 JBrowse link 7 116,525,009 116,561,185 RGD:8699517
G CAVIN1 caveolae associated protein 1 JBrowse link 17 42,402,449 42,423,269 RGD:8699517
G CBS cystathionine beta-synthase JBrowse link 21 43,053,190 43,076,861 RGD:8699517
G CEP19 centrosomal protein 19 JBrowse link 3 196,706,273 196,712,290 RGD:8699517
G CIDEC cell death inducing DFFA like effector c JBrowse link 3 9,866,710 9,880,254 RGD:8699517
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B JBrowse link 11 72,285,495 72,434,684 RGD:8699517
G COX15 cytochrome c oxidase assembly homolog COX15 JBrowse link 10 99,694,293 99,732,131 RGD:8699517
G CPT1A carnitine palmitoyltransferase 1A JBrowse link 11 68,754,620 68,844,410 RGD:8699517
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 JBrowse link 15 51,208,057 51,338,596 RGD:8699517
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 1 20,651,777 20,661,369 RGD:8699517
G DGUOK deoxyguanosine kinase JBrowse link 2 73,926,827 73,958,961 RGD:8699517
G ETFA electron transfer flavoprotein subunit alpha JBrowse link 15 76,215,353 76,311,469 RGD:8699517
G ETFB electron transfer flavoprotein subunit beta JBrowse link 19 51,345,155 51,366,388 RGD:8699517
G ETFDH electron transfer flavoprotein dehydrogenase JBrowse link 4 158,672,101 158,709,623 RGD:8699517
G FARSB phenylalanyl-tRNA synthetase subunit beta JBrowse link 2 222,566,899 222,656,092 RGD:8699517
G FBP1 fructose-bisphosphatase 1 JBrowse link 9 94,603,133 94,640,263 RGD:8699517
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 14 75,278,828 75,282,230 RGD:8699517
G GABRD gamma-aminobutyric acid type A receptor subunit delta JBrowse link 1 2,019,345 2,030,758 RGD:8699517
G GPD1 glycerol-3-phosphate dehydrogenase 1 JBrowse link 12 50,104,008 50,111,313 RGD:8699517
G HADH hydroxyacyl-CoA dehydrogenase JBrowse link 4 107,989,839 108,035,175 RGD:8699517
G HFE homeostatic iron regulator JBrowse link 6 26,087,281 26,098,343 RGD:8699517
G HNF1B HNF1 homeobox B JBrowse link 17 37,686,431 37,745,059 RGD:8699517
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 44,355,699 44,434,596 RGD:8699517
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 12 54,280,726 54,287,087 RGD:8699517
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 7 26,189,920 26,200,775 RGD:8699517
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 119,452,497 119,542,332 RGD:8699517
G IARS1 isoleucyl-tRNA synthetase 1 JBrowse link 9 92,210,207 92,293,697 RGD:8699517
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 1 5,992,639 6,101,186 RGD:8699517
G LARS1 leucyl-tRNA synthetase 1 JBrowse link 5 146,113,026 146,182,787 RGD:8699517
G LDLR low density lipoprotein receptor JBrowse link 19 11,089,432 11,133,820 RGD:8699517
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 JBrowse link 1 25,543,588 25,590,400 RGD:8699517
G LEPR leptin receptor JBrowse link 1 65,420,652 65,641,559 RGD:14696694
G LIPA lipase A, lysosomal acid type JBrowse link 10 89,213,569 89,252,039 RGD:8699517
G LIPE lipase E, hormone sensitive type JBrowse link 19 42,401,512 42,427,421 RGD:8699517
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8699517
G LMNB2 lamin B2 JBrowse link 19 2,428,166 2,456,959 RGD:8699517
G LYRM4 LYR motif containing 4 JBrowse link 6 5,031,029 5,260,950 RGD:8699517
G MARS1 methionyl-tRNA synthetase 1 JBrowse link 12 57,488,068 57,516,655 RGD:8699517
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,097 RGD:8699517
G MRPS7 mitochondrial ribosomal protein S7 JBrowse link 17 75,261,879 75,266,376 RGD:8699517
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 8 125,091,779 125,367,125 RGD:8699517
G PCK1 phosphoenolpyruvate carboxykinase 1 JBrowse link 20 57,561,110 57,568,121 RGD:8699517
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial JBrowse link 14 24,094,311 24,104,125 RGD:8699517
G PCSK9 proprotein convertase subtilisin/kexin type 9 JBrowse link 1 55,039,548 55,064,853 RGD:8699517
G PGM1 phosphoglucomutase 1 JBrowse link 1 63,593,411 63,660,245 RGD:8699517
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 18,892,298 18,984,114 RGD:8699517
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 16 30,748,299 30,761,176 RGD:8699517
G PLIN1 perilipin 1 JBrowse link 15 89,664,365 89,679,367 RGD:8699517
G PMM2 phosphomannomutase 2 JBrowse link 16 8,797,813 8,849,326 RGD:8699517
G PNPLA2 patatin like phospholipase domain containing 2 JBrowse link 11 818,890 825,573 RGD:8699517
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 19 50,384,291 50,418,018 RGD:8699517
G POLR3A RNA polymerase III subunit A JBrowse link 10 77,975,149 78,029,515 RGD:8699517
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,434,344 RGD:8699517
G PRDM16 PR/SET domain 16 JBrowse link 1 3,069,203 3,438,621 RGD:8699517
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 17 59,697,306 59,707,626 RGD:8699517
G RERE arginine-glutamic acid dipeptide repeats JBrowse link 1 8,352,404 8,817,640 RGD:8699517
G RMND1 required for meiotic nuclear division 1 homolog JBrowse link 6 151,404,548 151,452,181 RGD:8699517
G SAR1B secretion associated Ras related GTPase 1B JBrowse link 5 134,601,149 134,632,828 RGD:8699517
G SKI SKI proto-oncogene JBrowse link 1 2,228,319 2,310,213 RGD:8699517
G SLC22A5 solute carrier family 22 member 5 JBrowse link 5 132,369,704 132,395,614 RGD:8699517
G SLC25A13 solute carrier family 25 member 13 JBrowse link 7 96,120,220 96,322,147 RGD:8699517
G SLC40A1 solute carrier family 40 member 1 JBrowse link 2 189,560,590 189,580,811 RGD:8699517
G TARS2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link 1 150,487,411 150,507,609 RGD:8699517
G TMEM199 transmembrane protein 199 JBrowse link 17 28,357,647 28,363,683 RGD:8699517
G TRAPPC11 trafficking protein particle complex 11 JBrowse link 4 183,659,267 183,713,594 RGD:8699517
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:8699517
G XRCC4 X-ray repair cross complementing 4 JBrowse link 5 83,077,409 83,370,333 RGD:8699517
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8699517
Acute hepatic steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 JBrowse link 8 58,490,178 58,500,163 RGD:8699517
G MCCC1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 3 183,015,218 183,099,587 RGD:8699517
Diffuse hepatic steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACOX1 acyl-CoA oxidase 1 JBrowse link 17 75,941,507 75,979,199 RGD:8699517
G COA8 cytochrome c oxidase assembly factor 8 JBrowse link 14 103,562,960 103,593,214 RGD:8699517
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 2 26,190,635 26,244,632 RGD:8699517
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 2 26,244,748 26,290,465 RGD:8699517
Macrovesicular hepatic steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB3 adrenoceptor beta 3 JBrowse link 8 37,962,990 37,966,599 RGD:5684892
G COG6 component of oligomeric golgi complex 6 JBrowse link 13 39,655,627 39,791,666 RGD:8699517
G CPT2 carnitine palmitoyltransferase 2 JBrowse link 1 53,196,824 53,214,197 RGD:8699517
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 JBrowse link 8 58,490,178 58,500,163 RGD:8699517
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 16 23,520,754 23,557,375 RGD:8699517
G HFE homeostatic iron regulator JBrowse link 6 26,087,281 26,098,343 RGD:8694420
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,097 RGD:8699517
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 15 41,387,353 41,402,501 RGD:8699517
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,824 RGD:8699517
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 102,204,501 102,238,961 RGD:8699517
G TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 22 46,335,714 46,357,340 RGD:8699517
G TYMP thymidine phosphorylase JBrowse link 22 50,525,752 50,530,085 RGD:8699517
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 122,229,564 122,266,494 RGD:8699517
Microvesicular hepatic steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 3 128,879,490 128,913,114 RGD:8699517
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 2 218,659,683 218,663,443 RGD:8699517
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial JBrowse link 13 110,641,410 110,713,601 RGD:8699517
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 3 180,983,709 180,989,774 RGD:8699517
G LRPPRC leucine rich pentatricopeptide repeat containing JBrowse link 2 43,886,224 43,995,989 RGD:8699517
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,097 RGD:8699517
G MRPL44 mitochondrial ribosomal protein L44 JBrowse link 2 223,950,846 223,967,714 RGD:8699517
G NGLY1 N-glycanase 1 JBrowse link 3 25,718,944 25,790,039 RGD:8699517
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,824 RGD:8699517
G TFAM transcription factor A, mitochondrial JBrowse link 10 58,385,143 58,399,230 RGD:8699517
G TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 22 46,335,714 46,357,340 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the digestive system 2313
        Abnormality of the abdominal organs 1087
          Abnormality of the liver 914
            Abnormal liver morphology 744
              Storage in hepatocytes 120
                Lipid accumulation in hepatocytes 120
                  Hepatic steatosis 108
                    Acute hepatic steatosis 2
                    Diffuse hepatic steatosis 4
                    Macrovesicular hepatic steatosis 13
                    Microvesicular hepatic steatosis 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.