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ONTOLOGY REPORT - ANNOTATIONS


Term:esophageal atresia
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Accession:DOID:10485 term browser browse the term
Definition:Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Synonyms:exact_synonym: Congenital atresia of esophagus;   Congenital imperforate esophagus;   Esophageal Atresias;   Imperforate esophagus;   Oesophageal atresia
 primary_id: MESH:D004933;   RDO:0003282
 xref: GARD:6381;   ICD10CM:Q39.0;   NCI:C87072
For additional species annotation, visit the Alliance of Genome Resources.


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esophageal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMBRA1 autophagy and beclin 1 regulator 1 JBrowse link 11 46,355,026 46,556,091 RGD:9068941
G ANAPC2 anaphase promoting complex subunit 2 JBrowse link 9 108,234,949 108,248,227 RGD:9068941
G ANKRD17 ankyrin repeat domain 17 JBrowse link 4 50,939,013 51,124,185 RGD:9068941
G ASH1L ASH1 like histone lysine methyltransferase JBrowse link 1 130,679,868 130,906,918 RGD:9068941
G ATP13A1 ATPase 13A1 JBrowse link 19 19,082,441 19,100,915 RGD:9068941
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 38,854,243 38,882,034 RGD:9068941
G ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 JBrowse link 17 3,992,088 4,013,998 RGD:9068941
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 JBrowse link 17 14,793,717 14,857,706 RGD:9068941
G C2CD4A C2 calcium dependent domain containing 4A JBrowse link 15 41,020,652 41,031,100 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 12 2,166,672 2,817,827 RGD:9068941
G CAMTA1 calmodulin binding transcription activator 1 JBrowse link 1 5,549,742 6,532,568 RGD:9068941
G CCR10 C-C motif chemokine receptor 10 JBrowse link 17 14,636,529 14,637,750 RGD:9068941
G CDC27 cell division cycle 27 JBrowse link 17 10,259,194 10,331,011 RGD:9068941
G CELF3 CUGBP Elav-like family member 3 JBrowse link 1 127,060,330 127,075,106 RGD:9068941
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 17 7,919,803 7,947,787 RGD:9068941
G CHST1 carbohydrate sulfotransferase 1 JBrowse link 11 45,604,605 45,621,332 RGD:9068941
G CLIP3 CAP-Gly domain containing linker protein 3 JBrowse link 19 32,932,915 32,951,047 RGD:9068941
G CMIP c-Maf inducing protein JBrowse link 16 62,048,888 62,316,799 RGD:9068941
G CNTNAP1 contactin associated protein 1 JBrowse link 17 14,618,294 14,635,193 RGD:9068941
G COP1 COP1 E3 ubiquitin ligase JBrowse link 1 151,459,354 151,727,131 RGD:9068941
G CUX1 cut like homeobox 1 JBrowse link 7 93,954,599 94,432,697 RGD:9068941
G DDN dendrin JBrowse link 12 39,751,507 39,755,731 RGD:9068941
G DGCR8 DGCR8 microprocessor complex subunit JBrowse link 22 2,841,041 2,872,325 RGD:9068941
G DNM2 dynamin 2 JBrowse link 19 10,272,172 10,386,032 RGD:9068941
G DOCK3 dedicator of cytokinesis 3 JBrowse link 3 50,603,069 51,314,876 RGD:9068941
G DROSHA drosha ribonuclease III JBrowse link 5 78,813,923 78,945,149 RGD:9068941
G DSCAM DS cell adhesion molecule JBrowse link 21 26,366,295 27,192,617 RGD:9068941
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 11 112,263,509 112,632,332 RGD:9068941
G DST dystonin JBrowse link 6 56,014,832 56,513,346 RGD:9068941
G EFTUD2 elongation factor Tu GTP binding domain containing 2 JBrowse link 17 12,423,198 12,472,462 RGD:9068941
G FBXW7 F-box and WD repeat domain containing 7 JBrowse link 4 144,660,676 144,874,404 RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 JBrowse link 5 157,436,113 157,529,586 RGD:9068941
G GAL3ST3 galactose-3-O-sulfotransferase 3 JBrowse link 11 61,406,398 61,413,733 RGD:9068941
G GNAZ G protein subunit alpha z RGD:9068941
G GSTM1 glutathione S-transferase mu 1 RGD:9068941
G HOXC4 homeobox C4 JBrowse link 12 34,699,357 34,702,368 RGD:9068941
G HSPA12B heat shock protein family A (Hsp70) member 12B JBrowse link 20 3,815,293 3,835,683 RGD:9068941
G IGSF3 immunoglobulin superfamily member 3 JBrowse link 1 85,852,214 85,989,556 RGD:9068941
G INO80 INO80 complex ATPase subunit JBrowse link 15 19,920,980 20,058,117 RGD:9068941
G INSR insulin receptor JBrowse link 19 6,393,407 6,578,234 RGD:9068941
G IRGQ immunity related GTPase Q JBrowse link 19 40,533,711 40,538,157 RGD:9068941
G ITGB1 integrin subunit beta 1 JBrowse link 10 33,023,573 33,081,384 RGD:9068941
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 JBrowse link 6 33,194,531 33,269,788 RGD:9068941
G KALRN kalirin RhoGEF kinase JBrowse link 3 121,138,136 121,828,723 RGD:9068941
G KCNA6 potassium voltage-gated channel subfamily A member 6 JBrowse link 12 4,926,069 4,968,475 RGD:9068941
G KCNF1 potassium voltage-gated channel modifier subfamily F member 1 JBrowse link 2A 10,906,060 10,908,818 RGD:9068941
G KDM1A lysine demethylase 1A JBrowse link 1 22,205,624 22,269,571 RGD:9068941
G KDM4A lysine demethylase 4A JBrowse link 1 42,949,977 43,005,684 RGD:9068941
G KIAA1109 KIAA1109 ortholog JBrowse link 4 114,346,807 114,558,993 RGD:9068941
G KIF21B kinesin family member 21B JBrowse link 1 176,569,305 176,623,403 RGD:9068941
G KIF5A kinesin family member 5A JBrowse link 12 31,340,201 31,376,849 RGD:9068941
G KLHDC3 kelch domain containing 3 JBrowse link 6 42,606,462 42,613,565 RGD:9068941
G KLHL20 kelch like family member 20 JBrowse link 1 149,232,858 149,303,357 RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 7 23,788,760 23,858,965 RGD:9068941
G KMT2A lysine methyltransferase 2A JBrowse link 11 113,273,198 113,364,404 RGD:9068941
G KMT2B lysine methyltransferase 2B JBrowse link 19 32,647,815 32,668,656 RGD:9068941
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 101,582,567 101,613,175 RGD:9068941
G LOC100974973 histone H2A.Z JBrowse link 4 92,371,150 92,373,454 RGD:9068941
G LOC100988550 signal transducer and activator of transcription 5A JBrowse link 17 15,005,025 15,029,110 RGD:9068941
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha JBrowse link 20 55,190,607 55,262,245 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 45,337,117 45,438,826 RGD:9068941
G MARK2 microtubule affinity regulating kinase 2 JBrowse link 11 59,195,852 59,268,391 RGD:9068941
G MEGF8 multiple EGF like domains 8 JBrowse link 19 39,213,339 39,265,391 RGD:9068941
G MID2 midline 2 JBrowse link X 96,917,731 97,026,545 RGD:9068941
G MYCBP2 MYC binding protein 2 JBrowse link 13 58,262,251 58,544,819 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 17,200,623 17,305,826 RGD:9068941
G NAGS N-acetylglutamate synthase JBrowse link 17 13,386,207 13,390,724 RGD:9068941
G NBEA neurobeachin JBrowse link 13 16,182,613 16,891,082 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 107,568,670 107,621,032 RGD:9068941
G NOTCH3 notch receptor 3 JBrowse link 19 14,692,571 14,733,758 RGD:9068941
G NPAS3 neuronal PAS domain protein 3 JBrowse link 14 13,701,786 14,568,738 RGD:9068941
G NRXN2 neurexin 2 JBrowse link 11 59,959,917 60,078,093 RGD:9068941
G PDE2A phosphodiesterase 2A JBrowse link 11 67,653,335 67,753,450 RGD:9068941
G PDE4D phosphodiesterase 4D JBrowse link 5 53,510,287 55,039,181 RGD:9068941
G PI4KA phosphatidylinositol 4-kinase alpha JBrowse link 22 2,931,523 3,082,475 RGD:9068941
G PLK2 polo like kinase 2 JBrowse link 5 55,543,828 55,550,116 RGD:9068941
G PLXNA2 plexin A2 JBrowse link 1 183,600,533 183,848,418 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 96,720,988 96,743,594 RGD:9068941
G PSMD2 proteasome 26S subunit, non-ATPase 2 JBrowse link 3 181,336,634 181,346,471 RGD:9068941
G RORB RAR related orphan receptor B JBrowse link 9 50,144,836 50,340,910 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 30,718,669 30,777,671 RGD:9068941
G RSPH14 radial spoke head 14 homolog RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 1 212,600,198 213,387,312 RGD:9068941
G SFMBT1 Scm like with four mbt domains 1 JBrowse link 3 52,841,693 52,991,613 RGD:9068941
G SFPQ splicing factor proline and glutamine rich JBrowse link 1 34,444,105 34,461,012 RGD:9068941
G SH3KBP1 SH3 domain containing kinase binding protein 1 JBrowse link X 12,154,789 12,511,949 RGD:9068941
G SHANK2 SH3 and multiple ankyrin repeat domains 2 JBrowse link 11 65,570,677 66,268,139 RGD:9068941
G SIN3A SIN3 transcription regulator family member A JBrowse link 15 54,285,587 54,371,376 RGD:9068941
G SIPA1 signal-induced proliferation-associated 1 JBrowse link 11 60,997,292 61,010,155 RGD:9068941
G SLC18A2 solute carrier family 18 member A2 JBrowse link 10 113,823,005 113,862,451 RGD:9068941
G SLC38A5 solute carrier family 38 member 5 JBrowse link X 40,756,423 40,768,327 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 3 178,744,881 178,747,392 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 14,928,689 15,003,644 RGD:9068941
G TCF4 transcription factor 4 JBrowse link 18 48,603,069 48,969,010 RGD:9068941
G TENM2 teneurin transmembrane protein 2 JBrowse link 5 162,346,710 163,627,371 RGD:9068941
G TENT5A terminal nucleotidyltransferase 5A JBrowse link 6 79,636,412 79,643,444 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,542,217 1,586,775 RGD:9068941
G TLK2 tousled like kinase 2 JBrowse link 17 56,542,670 56,678,294 RGD:9068941
G TMCC1 transmembrane and coiled-coil domain family 1 JBrowse link 3 126,705,270 126,955,798 RGD:9068941
G TNPO1 transportin 1 JBrowse link 5 42,404,013 42,501,748 RGD:9068941
G TRIM71 tripartite motif containing 71 JBrowse link 3 32,745,217 32,824,985 RGD:9068941
G TRIO trio Rho guanine nucleotide exchange factor JBrowse link 5 14,448,259 14,814,875 RGD:9068941
G TRMT1L tRNA methyltransferase 1 like JBrowse link 1 160,642,659 160,681,709 RGD:9068941
G UBE3A ubiquitin protein ligase E3A JBrowse link 15 4,494,029 4,595,415 RGD:9068941
G UNC13A unc-13 homolog A JBrowse link 19 17,088,654 17,175,559 RGD:9068941
G VPS51 VPS51 subunit of GARP complex JBrowse link 11 60,452,483 60,474,049 RGD:9068941
G WDR13 WD repeat domain 13 JBrowse link X 40,895,793 40,907,183 RGD:9068941
G XAB2 XPA binding protein 2 JBrowse link 19 6,909,281 6,919,332 RGD:9068941
G XKR7 XK related 7 JBrowse link 20 28,263,026 28,297,736 RGD:9068941
G XPO7 exportin 7 JBrowse link 8 21,163,846 21,251,377 RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 18 70,213,383 70,361,741 RGD:9068941
G ZNF777 zinc finger protein 777 JBrowse link 7 141,163,479 141,193,859 RGD:9068941
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 13,574,422 13,658,967 RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 55,786,568 55,973,366 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 2B 7,665,403 7,922,840 RGD:9068941
G NOG noggin JBrowse link 17 50,669,186 50,671,081 RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 7 147,400,112 147,414,036 RGD:9068941
syndromic microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 14 41,113,282 41,117,018 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 3 178,744,881 178,747,392 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      gastrointestinal system disease 3943
        Digestive System Abnormalities 417
          esophageal atresia 118
            Arroyo Garcia Cimadevilla Syndrome 0
            esophageal atresia/tracheoesophageal fistula 5
            syndromic microphthalmia 3 2
Path 2
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      gastrointestinal system disease 3943
        Gastrointestinal Diseases 2361
          esophageal disease 405
            esophageal atresia 118
              Arroyo Garcia Cimadevilla Syndrome 0
              esophageal atresia/tracheoesophageal fistula 5
              syndromic microphthalmia 3 2
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.