ONTOLOGY REPORT - ANNOTATIONS


Term:megacolon
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Accession:DOID:11372 term browser browse the term
Definition:Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.
Synonyms:exact_synonym: Megacolons;   dilatation of colon
 primary_id: MESH:D008531
 alt_id: RDO:0005809
For additional species annotation, visit the Alliance of Genome Resources.


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megacolon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:628515
G Slc8a1 solute carrier family 8 member A1 JBrowse link 6 4,244,076 4,564,262 RGD:11554173
Goldberg-Shprintzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
RGD:7240710
RGD:11554173
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
Hirschsprung Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahnak AHNAK nucleoprotein JBrowse link 1 225,184,883 225,429,638 RGD:8554872
G Ccr9 C-C motif chemokine receptor 9 JBrowse link 8 132,827,325 132,842,130 RGD:8554872
G Cluh clustered mitochondria homolog JBrowse link 10 61,432,872 61,454,445 RGD:8554872
G Cntn5 contactin 5 JBrowse link 8 7,812,371 9,033,962 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dennd3 DENN domain containing 3 JBrowse link 7 114,724,644 114,812,471 RGD:8554872
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Fat3 FAT atypical cadherin 3 JBrowse link 8 14,417,039 15,011,596 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:8554872
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Irak3 interleukin-1 receptor-associated kinase 3 JBrowse link 7 64,922,830 64,982,224 RGD:8554872
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8554872
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Nav2 neuron navigator 2 JBrowse link 1 104,575,765 104,941,554 RGD:8554872
G Ncln nicalin JBrowse link 7 11,081,544 11,091,583 RGD:8554872
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:8554872
G Nrp2 neuropilin 2 JBrowse link 9 69,496,875 69,609,802 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:8554872
G Nup98 nucleoporin 98 JBrowse link 1 167,213,866 167,308,851 RGD:8554872
G Olr1376 olfactory receptor 1376 JBrowse link 10 12,673,136 12,674,077 RGD:8554872
G Pcdha1 protocadherin alpha 1 JBrowse link 18 29,951,094 30,215,896 RGD:8554872
G Pcdha10 protocadherin alpha 10 JBrowse link 18 30,010,918 30,215,896 RGD:8554872
G Pcdha11 protocadherin alpha 11 JBrowse link 18 30,017,918 30,215,896 RGD:8554872
G Pcdha12 protocadherin alpha 12 JBrowse link 18 30,023,828 30,215,896 RGD:8554872
G Pcdha13 protocadherin alpha 13 JBrowse link 18 30,036,887 30,215,897 RGD:8554872
G Pcdha2 protocadherin alpha 2 JBrowse link 18 29,960,072 30,215,896 RGD:8554872
G Pcdha3 protocadherin alpha 3 JBrowse link 18 29,966,245 30,215,896 RGD:8554872
G Pcdha4 protocadherin alpha 4 JBrowse link 18 29,950,217 30,215,901 RGD:8554872
G Pcdha5 protocadherin alpha 5 JBrowse link 18 29,980,268 30,215,897 RGD:8554872
G Pcdha6 protocadherin alpha 6 JBrowse link 18 29,987,206 30,215,896 RGD:8554872
G Pcdha7 protocadherin alpha 7 JBrowse link 18 29,993,361 30,215,896 RGD:8554872
G Pcdha8 protocadherin alpha 8 JBrowse link 18 29,999,290 30,215,896 RGD:8554872
G Pcdha9 protocadherin alpha 9 JBrowse link 18 30,004,565 30,215,897 RGD:8554872
G Pcdhac1 protocadherin alpha subfamily C, 1 JBrowse link 18 30,114,708 30,215,896 RGD:8554872
G Pcdhac2 protocadherin alpha subfamily C, 2 JBrowse link 18 30,172,740 30,215,896 RGD:8554872
G Pgrmc2 progesterone receptor membrane component 2 JBrowse link 2 127,986,106 128,002,005 RGD:8554872
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Sema3d semaphorin 3D JBrowse link 4 19,224,378 19,413,519 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
G Tbata thymus, brain and testes associated JBrowse link 20 30,786,239 30,804,354 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Thbs4 thrombospondin 4 JBrowse link 2 22,343,727 22,385,855 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
G Zhx2 zinc fingers and homeoboxes 2 JBrowse link 7 97,559,653 97,707,872 RGD:8554872
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2b paired-like homeobox 2b JBrowse link 14 42,711,169 42,718,707 RGD:8554872
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:7240710
RGD:8554872
Hirschsprung's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5509847
G Aebp2 AE binding protein 2 JBrowse link 4 174,799,378 174,863,260 RGD:13592920
G Axin2 axin 2 JBrowse link 10 97,212,483 97,238,824 RGD:8554872
G Cavin2 caveolae associated protein 2 JBrowse link 9 55,244,136 55,256,153 RGD:11554173
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7193054
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Dscam DS cell adhesion molecule JBrowse link 11 37,004,776 37,599,866 RGD:8554872
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:11554173
RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:1601003
RGD:7240710
RGD:8554872
RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:1601008
RGD:7240710
RGD:8554872
RGD:628516
RGD:11554173
RGD:1342447
G Ednrbsl endothelin receptor type B, spotting lethal RGD:6480217
G Erbb2 erb-b2 receptor tyrosine kinase 2 JBrowse link 10 86,367,596 86,391,728 RGD:734940
RGD:13592920
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:8554872
RGD:7240710
RGD:11554173
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:6218967
RGD:13592920
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792222
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792222
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:13208819
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:13592920
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:13592920
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:12910727
RGD:12910747
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483043
RGD:8554872
G Mir195 microRNA 195 JBrowse link 10 56,845,301 56,845,387 RGD:11554173
G Mir206 microRNA 206 JBrowse link 9 26,791,764 26,791,847 RGD:11554173
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508387
G Nrg1 neuregulin 1 JBrowse link 16 62,969,573 64,065,063 RGD:11554173
G Nrg3 neuregulin 3 JBrowse link 16 15,763,031 16,932,208 RGD:8554872
G Nrtn neurturin JBrowse link 9 10,299,881 10,306,599 RGD:1600267
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5684546
G Phox2b paired-like homeobox 2b JBrowse link 14 42,711,169 42,718,707 RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Prokr1 prokineticin receptor 1 JBrowse link 4 119,375,790 119,386,551 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
RGD:7240710
RGD:12910713
RGD:11554173
G Sema3d semaphorin 3D JBrowse link 4 19,224,378 19,413,519 RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801434
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:12879497
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12802335
RGD:8554872
G Stx1a syntaxin 1A JBrowse link 12 24,682,050 24,710,002 RGD:1581432
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Utp25 UTP25, small subunit processor component JBrowse link 13 111,828,052 111,849,654 RGD:11554173
G Wnt8b Wnt family member 8B JBrowse link 1 264,244,150 264,266,136 RGD:12801434
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:1599885
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
PCWH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:13592920
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872
RGD:12802339
Total Intestinal Aganglionosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
RGD:8554872
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
RGD:8554872
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      gastrointestinal system disease 4264
        intestinal disease 1311
          colonic disease 873
            megacolon 99
              Hirschsprung's disease + 98
              toxic megacolon 0
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      gastrointestinal system disease 4264
        Gastrointestinal Diseases 2359
          intestinal disease 1311
            colonic disease 873
              megacolon 99
                Hirschsprung's disease + 98
                toxic megacolon 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.