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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


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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 7:92,493,934...92,498,460 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 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 JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:103,636,173...103,644,167 JBrowse link
G Adam3a ADAM metallopeptidase domain 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr16:67,299,949...67,349,970 JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:25,000,627...25,047,205 JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:10,397,774...10,434,557 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 JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:151,590,968...151,601,394 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 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:60,063,370...60,068,378 JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923 RGD:1625354 NCBI chr 7:14,550,288...14,557,797 JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22491424 NCBI chr20:49,380,835...49,471,826 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 JBrowse link
G Cabcoco1 ciliary associated calcium binding coiled-coil 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr20:20,058,492...20,167,973 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 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 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 JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr19:50,487,598...50,495,669 JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442 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 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 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 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 JBrowse link
G Dscam DS cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr11:35,921,924...36,507,100 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 JBrowse link
G Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:38,903,695...39,560,683 JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30641053 NCBI chr12:15,217,217...15,222,679 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 JBrowse link
G Hdc histidine decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:113,847,256...113,865,334 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IEP protein:increased expression:liver (rat) RGD PMID:10892723 RGD:2326126 NCBI chr 2:185,875,609...185,903,505 JBrowse link
G Hnf1a HNF1 homeobox A IMP RGD PMID:28394260 RGD:14700773 NCBI chr12:47,299,171...47,333,457 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 8:19,768,375...19,777,862 JBrowse link
G Klf11 KLF transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:41,285,699...41,297,548 JBrowse link
G Krt90 keratin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:132,677,994...132,686,634 JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: therapeutic CTD PMID:37459939 NCBI chr 8:20,270,020...20,292,981 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 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 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 JBrowse link
G Mboat2 membrane bound O-acyltransferase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:41,471,135...41,597,599 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 JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: therapeutic CTD PMID:28483554 NCBI 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 7:120,046,705...120,067,049 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 JBrowse link
G Myo1b myosin Ib ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:49,690,043...49,852,373 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 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 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 JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:95,041,967...95,047,358 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 JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23607986 PMID:32320717 PMID:36030841 NCBI chr11:75,965,717...76,006,733 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 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 JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304 JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 1:87,536,650...87,681,233 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 JBrowse link
G Prss35 serine protease 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 8:87,714,449...87,731,009 JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:15199412 RGD:1302555 NCBI 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 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 JBrowse link
G RGD1565959 RGD1565959 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 9:12,873,697...12,886,364 JBrowse link
G Sbspon somatomedin B and thrombospondin, type 1 domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:3,402,763...3,433,338 JBrowse link
G Sesn2 sestrin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28209544 NCBI chr 5:149,986,304...150,005,255 JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:28,645,265...28,685,388 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 JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:63,343,078...63,350,590 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 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 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 susceptibility 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:15622525 More... NCBI chr 5:138,002,522...138,030,742 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        liver disease 3009
          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 19139
    disease of anatomical entity 18450
      gastrointestinal system disease 7189
        hepatobiliary disease 3120
          liver disease 3009
            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