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ONTOLOGY REPORT - ANNOTATIONS


Term:Hirschsprung's disease
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Accession:DOID:10487 term browser browse the term
Definition:Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Synonyms:exact_synonym: HSCR;   HSCR1;   HSCR2;   HSCR3;   HSCR4;   HSCR5;   HSCR6;   HSCR7;   HSCR8;   HSCR9;   Hirschsprung disease;   Hirschsprungs disease;   MGC;   aganglionic megacolon;   colonic aganglionosis;   congenital intestinal aganglionosis;   congenital megacolon;   macrocolon;   pelvirectal achalasia;   rectosigmoid aganglionosis;   rectosigmoid colon aganglionosis;   total colonic aganglionosis
 narrow_synonym: Hirschsprung disease, dominant;   Hirschsprung disease, recessive
 related_synonym: Hirschsprung Disease, Susceptibility to, 1;   Hirschsprung Disease, Susceptibility to, 2;   Hirschsprung Disease, Susceptibility to, 3;   Hirschsprung Disease, Susceptibility to, 4;   Hirschsprung Disease, Susceptibility to, 5;   Hirschsprung Disease, Susceptibility to, 6;   Hirschsprung Disease, Susceptibility to, 7;   Hirschsprung Disease, Susceptibility to, 8;   Hirschsprung Disease, Susceptibility to, 9;   Hirschsprung disease, protection against
 primary_id: MESH:D006627
 alt_id: OMIM:142623;   OMIM:600155;   OMIM:600156;   OMIM:606874;   OMIM:606875;   OMIM:608462;   OMIM:611644;   OMIM:613711;   OMIM:613712;   RDO:0000841
 xref: GARD:6660;   NCI:C34700;   OMIM:PS142623;   ORDO:388
For additional species annotation, visit the Alliance of Genome Resources.


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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 Bmi1 BMI1 proto-oncogene, polycomb ring finger JBrowse link 17 85,360,439 85,370,283 RGD:11554173
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:8554872
RGD:7240710
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 Mir128-1 microRNA 128-1 JBrowse link 13 44,916,534 44,916,615 RGD:11554173
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 transcription factor 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
Goldberg-Shprintzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Actrt2 actin-related protein T2 JBrowse link 5 172,077,290 172,078,690 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
G Ankrd65 ankyrin repeat domain 65 JBrowse link 5 173,237,642 173,239,899 RGD:8554872
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link 5 173,274,433 173,276,170 RGD:8554872
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ccnl2 cyclin L2 JBrowse link 5 173,256,301 173,268,279 RGD:8554872
G Cdk11b cyclin-dependent kinase 11B JBrowse link 5 173,051,900 173,078,049 RGD:8554872
G Cfap74 cilia and flagella associated protein 74 JBrowse link 5 172,817,221 172,884,996 RGD:8554872
G Cptp ceramide-1-phosphate transfer protein JBrowse link 5 173,314,219 173,318,384 RGD:8554872
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
G Faap20 FA core complex associated protein 20 JBrowse link 5 172,648,171 172,655,576 RGD:8554872
G Fndc10 fibronectin type III domain containing 10 JBrowse link 5 173,139,345 173,141,564 RGD:8554872
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Hes5 hes family bHLH transcription factor 5 JBrowse link 5 172,364,421 172,365,188 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Kifbp kinesin family binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
RGD:7240710
RGD:11554173
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 173,082,943 173,099,353 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Mmel1 membrane metallo-endopeptidase-like 1 JBrowse link 5 172,273,450 172,303,905 RGD:8554872
G Mmp23 matrix metallopeptidase 23 JBrowse link 5 173,078,811 173,082,834 RGD:8554872
G Morn1 MORN repeat containing 1 JBrowse link 5 172,489,160 172,547,102 RGD:8554872
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link 5 173,248,245 173,252,775 RGD:8554872
G Mxra8 matrix remodeling associated 8 JBrowse link 5 173,288,200 173,292,926 RGD:8554872
G Nadk NAD kinase JBrowse link 5 172,984,930 173,015,505 RGD:8554872
G Pank4 pantothenate kinase 4 JBrowse link 5 172,367,593 172,384,077 RGD:8554872
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Prkcz protein kinase C, zeta JBrowse link 5 172,658,071 172,769,492 RGD:8554872
G Prxl2b peroxiredoxin like 2B JBrowse link 5 172,304,799 172,307,402 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Slc35e2b solute carrier family 35, member E2B JBrowse link 5 173,024,335 173,050,228 RGD:8554872
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 173,152,964 173,182,720 RGD:8554872
G Tas1r3 taste 1 receptor member 3 JBrowse link 5 173,307,325 173,312,950 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:8554872
G Tmem52 transmembrane protein 52 JBrowse link 5 172,887,587 172,889,349 RGD:8554872
G Tmem88b transmembrane protein 88B JBrowse link 5 173,230,364 173,233,188 RGD:8554872
G Tnfrsf14 TNF receptor superfamily member 14 JBrowse link 5 172,328,259 172,337,221 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttc34 tetratricopeptide repeat domain 34 JBrowse link 5 172,253,257 172,271,056 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link 5 173,216,737 173,221,923 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 transcription factor 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
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 transcription factor 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 transcription factor 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 transcription factor 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 transcription factor 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 15626
    disease of anatomical entity 14956
      gastrointestinal system disease 4377
        Digestive System Abnormalities 318
          Hirschsprung's disease 152
            Al Gazali Hirschsprung Syndrome 0
            Bresheck/Bresek Syndrome 0
            Cartilage Hair Hypoplasia Like Syndrome 0
            Goldberg-Shprintzen syndrome 54
            Hirschsprung Disease 1 53
            Hirschsprung Disease Ganglioneuroblastoma 1
            Hirschsprung Disease Polydactyly Heart Disease 0
            Hirschsprung Disease Type 3 0
            Hirschsprung Disease Type d Brachydactyly 0
            Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
            Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
            Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
            Laurence Prosser Rocker Syndrome 0
            Mowat-Wilson syndrome 3
            PCWH syndrome 3
            Santos Mateus Leal Syndrome 0
            Total Intestinal Aganglionosis 6
            Waardenburg Syndrome Type 4 + 6
            cartilage-hair hypoplasia 0
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      gastrointestinal system disease 4377
        Gastrointestinal Diseases 2312
          intestinal disease 1386
            colonic disease 942
              megacolon 153
                Hirschsprung's disease 152
                  Al Gazali Hirschsprung Syndrome 0
                  Bresheck/Bresek Syndrome 0
                  Cartilage Hair Hypoplasia Like Syndrome 0
                  Goldberg-Shprintzen syndrome 54
                  Hirschsprung Disease 1 53
                  Hirschsprung Disease Ganglioneuroblastoma 1
                  Hirschsprung Disease Polydactyly Heart Disease 0
                  Hirschsprung Disease Type 3 0
                  Hirschsprung Disease Type d Brachydactyly 0
                  Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                  Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                  Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                  Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
                  Laurence Prosser Rocker Syndrome 0
                  Mowat-Wilson syndrome 3
                  PCWH syndrome 3
                  Santos Mateus Leal Syndrome 0
                  Total Intestinal Aganglionosis 6
                  Waardenburg Syndrome Type 4 + 6
                  cartilage-hair hypoplasia 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.