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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: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.


show annotations for term's descendants           Sort by:
 
esophageal atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,914,264...88,967,736
Ensembl chr10:88,914,276...88,967,748
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:73,671,516...73,686,344
Ensembl chr 8:73,672,295...73,673,317
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:92,551,754...92,602,214
Ensembl chr10:92,554,081...92,602,082
JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:49,792,273...50,000,535
Ensembl chr19:49,792,273...50,000,535
JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hoxc4 homeo box C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 7:144,646,605...144,652,589
Ensembl chr 7:144,647,587...144,650,129
JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Plk2 polo-like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:41,911,143...41,916,901
Ensembl chr 2:41,911,131...41,916,901
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:221,006,305...221,018,820
Ensembl chr 1:221,006,340...221,015,929
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:20,846,091...21,791,771
Ensembl chr10:20,844,899...21,265,026
JBrowse link
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29907814 PMID:29909963 PMID:30274973 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:32359370 PMID:33471991 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16712695 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:23701296 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      gastrointestinal system disease 6059
        Digestive System Abnormalities 526
          esophageal atresia 38
            Arroyo Garcia Cimadevilla Syndrome 0
            esophageal atresia/tracheoesophageal fistula 5
            syndromic microphthalmia 3 2
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      gastrointestinal system disease 6059
        Gastrointestinal Diseases 4143
          esophageal disease 365
            esophageal atresia 38
              Arroyo Garcia Cimadevilla Syndrome 0
              esophageal atresia/tracheoesophageal fistula 5
              syndromic microphthalmia 3 2
paths to the root