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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
 xref: MESH:D006529


show annotations for term's descendants           Sort by:
Hepatomegaly term browser
Symbol Object Name Qualifiers 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 7:94,383,333...94,387,922
Ensembl chr 7:94,383,333...94,387,496 		JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 ISO protein:increased expression:hippocampus (mouse) RGD PMID:25217640 RGD:21408550 NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:72,473,676...72,596,473 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment ISO RGD PMID:21209952 RGD:153297773 NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,793,583...79,839,494 		JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:109,367,274...109,375,268
Ensembl chr 6:109,367,268...109,380,749 		JBrowse link
G Adam3a ADAM metallopeptidase domain 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr16:74,002,566...74,052,579
Ensembl chr16:74,002,410...74,052,578 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:38,486,955...38,533,516 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:26278112 PMID:28487374 PMID:33607186 PMID:34848246 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:156,876,721...156,884,599
Ensembl chr 5:156,874,086...156,885,153 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:64,859,000...64,864,008
Ensembl chr 5:64,858,934...64,864,365 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923 RGD:1625354 NCBI chr 7:15,252,450...15,259,971
Ensembl chr 7:15,252,473...15,258,681 		JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22491424 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821 		JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Cabcoco1 ciliary associated calcium binding coiled-coil 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr20:20,057,462...20,166,732
Ensembl chr20:20,057,517...20,167,174 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr10:45,117,664...45,151,868
Ensembl chr10:45,117,657...45,152,074 		JBrowse link
G Crygd crystallin, gamma D ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:73,935,798...73,937,409
Ensembl chr 9:73,935,795...73,937,808 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:67,396,143...67,404,214 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:102,376,506...102,386,272
Ensembl chr10:102,376,507...102,386,272 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10445756 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:21,078,146...21,103,142 		JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:90,646,098...90,669,762 JBrowse link
G Dapk2 death-associated protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:75,601,621...75,720,619
Ensembl chr 8:75,601,634...75,720,617 		JBrowse link
G Dscam DS cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:49,391,385...49,976,861
Ensembl chr11:49,347,531...49,976,238 		JBrowse link
G Fgf12 fibroblast growth factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:85,501,947...86,069,543
Ensembl chr11:85,501,936...86,069,543 		JBrowse link
G Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:59,312,628...59,969,633
Ensembl chr 3:59,383,516...59,965,379 		JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30641053 NCBI chr12:20,331,073...20,336,527
Ensembl chr12:20,327,679...20,337,144 		JBrowse link
G Gpr155 G protein-coupled receptor 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:78,623,931...78,677,803
Ensembl chr 3:78,607,976...78,677,803 		JBrowse link
G Hdc histidine decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:134,300,628...134,318,704
Ensembl chr 3:134,300,632...134,318,711 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IEP protein:increased expression:liver (rat) RGD PMID:10892723 RGD:2326126 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:188,547,767...188,592,242 		JBrowse link
G Hnf1a HNF1 homeobox A IMP RGD PMID:28394260 RGD:14700773 NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		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
G Igkc immunoglobulin kappa constant ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:28,044,555...28,054,042 		JBrowse link
G Klf11 KLF transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:47,014,312...47,026,152
Ensembl chr 6:47,014,326...47,037,044 		JBrowse link
G Krt90 keratin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:134,555,972...134,565,420
Ensembl chr 7:134,556,526...134,565,359 		JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: therapeutic CTD PMID:37459939 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19716478 PMID:27071101 PMID:38906502 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23038009 PMID:29743445 PMID:36880193 PMID:39059604 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,751,357...6,812,294 		JBrowse link
G Mboat2 membrane bound O-acyltransferase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:47,199,751...47,326,215
Ensembl chr 6:47,199,774...47,326,208 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: therapeutic CTD PMID:28483554 NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:212,994,209...212,994,318 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: therapeutic CTD PMID:30641053 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Myo1b myosin Ib ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:57,182,059...57,344,335
Ensembl chr 9:57,181,987...57,344,328 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:32105670 RGD:21201282 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:104,178,234...104,183,863 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29142166 NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:25,733,471...25,829,389 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:23607986 PMID:32320717 PMID:36030841 PMID:38971454 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380 		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 chr13:86,165,327...86,170,362
Ensembl chr13:86,165,349...86,170,370 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:50,865,253...50,985,107
Ensembl chr13:50,867,920...50,984,938 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:96,673,607...96,818,190 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982965 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714 		JBrowse link
G Prss35 serine protease 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:96,594,460...96,610,992
Ensembl chr 8:96,590,571...96,613,024 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:15199412 RGD:1302555 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		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 6:94,433,558...94,476,219
Ensembl chr 6:94,426,346...94,476,269 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G RGD1565959 RGD1565959 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:20,371,212...20,383,992
Ensembl chr 9:20,371,212...20,384,666 		JBrowse link
G Sbspon somatomedin B and thrombospondin, type 1 domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:8,186,004...8,216,576
Ensembl chr 5:8,185,985...8,218,898 		JBrowse link
G Sesn2 sestrin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28209544 NCBI chr 5:149,986,304...150,005,255
Ensembl chr 5:149,986,317...150,005,255 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299 		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:25741868 More... NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:53,620,141...53,626,110 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:65,228,352...65,235,878 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:72,440,672...72,572,831
Ensembl chr10:72,440,644...72,572,828 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects 		CTD
OMIM
ClinVar		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15132717 More... NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      endocrine system disease 7007
        liver disease 2963
          Hepatomegaly 75
            Dykes Markes Harper Syndrome 0
            Refsum Disease with Increased Pipecolic Acidemia 0
            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 19154
    disease of anatomical entity 18461
      gastrointestinal system disease 7163
        hepatobiliary disease 3077
          liver disease 2963
            Hepatomegaly 75
              Dykes Markes Harper Syndrome 0
              Refsum Disease with Increased Pipecolic Acidemia 0
              Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
              Tang Hsi Ryu Syndrome 0
paths to the root