Human Phenotype Ontology 
Grandparent Node:
expandAbnormal liver morphology (HP:0410042)help
Parent Node:
expandStorage in hepatocytes (HP:0031137)help
..Starting node
..expandLipid 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006561HP:0006561Lipid accumulation in hepatocytes0 CL E G H
HP:0006561HP:0006565Increased hepatocellular lipid droplets1 CL E G H
HP:0006561HP:0001397Hepatic steatosis1 CL E G H
HP:0006561HP:0006573Acute hepatic steatosis2 CL E G H
HP:0006561HP:0001414Microvesicular hepatic steatosis2 CL E G H
HP:0006561HP:0001403Macrovesicular hepatic steatosis2 CL E G H
HP:0006561HP:0006555Diffuse hepatic steatosis2 CL E G H


Genes (112) :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 COA7 COA8 COG6 COX10 COX14 COX15 COX20 COX6B1 COX8A CPT1A CPT2 CYP19A1 CYP7A1 DDOST DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FASTKD2 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 PET100 PGM1 PLIN1 PMM2 PNPLA2 POLD1 POLG PPARG PRDM16 RERE RMND1 RRM2B SAR1B SCO1 SKI SLC22A5 SLC25A13 SLC40A1 TACO1 TARS2 TFAM TMEM199 TRAPPC11 TRMU TRNN TRNS1 TYMP VCP VPS33A XRCC4 ZMPSTE24

Diseases (102) :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 220110 615119 255120 91 300536 251880 231680 1606 614480 444490 71212 231530 465508 93111 52430 261515 617093 615438 278000 435660 615980 2348 79474 280365 79084 740 151660 79087 220111 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 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.