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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hepatomegaly
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Accession:DOID:9005369 term browser browse the term
Definition:Enlargement of the liver.
Synonyms:exact_synonym: Enlarged Liver
 primary_id: MESH:D006529;   RDO:0000671
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hepatomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1bg alpha-1-B glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:102,294,805...102,298,522
Ensembl chr 7:102,294,797...102,298,522
JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 ISO protein:increased expression:hippocampus (mouse) RGD PMID:25217640 RGD:21408550 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18395098, PMID:19101985, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:30311386 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:107,485,088...107,493,082
Ensembl chr 6:107,485,249...107,493,798
JBrowse link
G Adam3a ADAM metallopeptidase domain 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:26278112, PMID:28487374 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:157,801,120...157,813,756
Ensembl chr 5:157,801,163...157,813,756
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:61,382,351...61,387,359
Ensembl chr 5:61,382,351...61,387,358
JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923 RGD:1625354 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22491424 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Cabcoco1 ciliary associated calcium binding coiled-coil 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr20:21,316,770...21,426,036
Ensembl chr20:21,316,826...21,426,034
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr10:46,182,680...46,206,083
Ensembl chr10:46,182,687...46,206,135
JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:30311386 NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
JBrowse link
G Crygd crystallin, gamma D ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10445756 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
JBrowse link
G Dapk2 death-associated protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:71,822,107...71,941,941
Ensembl chr 8:71,822,129...71,941,910
JBrowse link
G Dscam DS cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
JBrowse link
G Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:39,967,056...40,625,144
Ensembl chr 3:40,038,336...40,624,530
JBrowse link
G Gpr155 G protein-coupled receptor 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:60,051,545...60,105,567
Ensembl chr 3:60,051,535...60,105,242
JBrowse link
G Hdc histidine decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IEP protein:increased expression:liver (rat) RGD PMID:10892723 RGD:2326126 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hnf1a HNF1 homeobox A IMP RGD PMID:28394260 RGD:14700773 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G IgG-2a gamma-2a immunoglobulin heavy chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177
G Igh-6 immunoglobulin heavy chain 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 Ensembl chr 6:138,092,131...138,093,643 JBrowse link
G Igkc immunoglobulin kappa constant ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177
G Kb15 type II keratin Kb15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Klf11 Kruppel-like factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19716478 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23038009, PMID:29743445 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mboat2 membrane bound O-acyltransferase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:44,009,872...44,135,501
Ensembl chr 6:44,009,872...44,131,387
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: therapeutic CTD PMID:28483554 NCBI chr 1:221,634,971...221,635,080
Ensembl chr 1:221,634,971...221,635,080
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:24886560, PMID:25741868, PMID:26092869, PMID:26490104, PMID:27570071, PMID:28492532, PMID:30311386 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
G Myo1b myosin Ib ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:54,706,005...54,766,054
Ensembl chr 9:54,558,202...54,766,054
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087, PMID:32105670 RGD:21201282 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29142166 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23607986, PMID:32320717 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:23607986, PMID:23721867, PMID:25656644, PMID:32320717, PMID:32435917 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 1:90,820,670...91,285,128 JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:30311386 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982965 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prss35 serine protease 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:94,423,629...94,440,509
Ensembl chr 8:94,423,808...94,440,503
JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:15199412 RGD:1302555 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pygl glycogen phosphorylase L IAGP associated with glycogen storage disease VI;DNA:mutation:multiple
DNA:SNPs,insertions,deletions:exons,introns:multiple
RGD PMID:17705025, PMID:21646031 RGD:11071447, RGD:21079734 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G RGD1565959 RGD1565959 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:14,883,241...14,896,662
Ensembl chr 9:14,883,296...14,895,960
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:24829207, PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
JBrowse link
G Sbspon somatomedin B and thrombospondin, type 1 domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:2,813,004...2,847,697
Ensembl chr 5:2,813,131...2,843,483
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Enlarged liver ClinVar PMID:30311386 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Sesn2 sestrin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28209544 NCBI chr 5:150,684,891...150,703,846
Ensembl chr 5:150,684,133...150,704,117
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:10923042, PMID:12444104, PMID:15669677, PMID:17994282, PMID:26913919, PMID:28492532, PMID:28685844, PMID:30311386 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link
Refsum Disease with Increased Pipecolic Acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Refsum disease with increased pipecolic acidemia ClinVar PMID:1773541, PMID:9090381, PMID:9090382, PMID:9090383, PMID:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:20301447, PMID:21465523, PMID:21990100, PMID:22008564, PMID:23572185, PMID:25741868, PMID:25800479, PMID:26587300, PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease with increased pipecolic acidemia ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects ClinVar
OMIM
PMID:1714544, PMID:10766892, PMID:10980529, PMID:11477212, PMID:12325075, PMID:12752470, PMID:15180870, PMID:16949238, PMID:17052934, PMID:18577546, PMID:18606970, PMID:19798636, PMID:20129935, PMID:20221955, PMID:20417043, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23280796, PMID:23306390, PMID:23340081, PMID:23443458, PMID:23448551, PMID:24963779, PMID:25108116, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25982116, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, PMID:26537434, PMID:26598494, PMID:28116237, PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          Hepatomegaly 78
            Dykes Markes Harper Syndrome 0
            Refsum Disease with Increased Pipecolic Acidemia 2
            Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
            Tang Hsi Ryu Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 0
          liver disease 2413
            Hepatomegaly 78
              Dykes Markes Harper Syndrome 0
              Refsum Disease with Increased Pipecolic Acidemia 2
              Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
              Tang Hsi Ryu Syndrome 0
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.