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
Accession: DOID:10485
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: Esophageal Atresias; congenital atresia of esophagus; congenital imperforate esophagus; imperforate esophagus; oesophageal atresia
primary_id: MESH:D004933
xref: GARD:6381 ; ICD10CM:Q39.0 ; NCI:C87072
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ambra1
autophagy and beclin 1 regulator 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
G
Atp6v0a1
ATPase H+ transporting V0 subunit a1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895
G
C2cd4a
C2 calcium-dependent domain containing 4A
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
G
Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
G
Cdc27
cell division cycle 27
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:89,400,720...89,449,816
Ensembl chr10:89,400,940...89,449,736
G
Cmip
c-Maf-inducing protein
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
G
Disp1
dispatched RND transporter family member 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
PMID:25741868
NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702
G
Drosha
drosha ribonuclease III
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688
G
Dscam
DS cell adhesion molecule
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415
G
Dst
dystonin
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
G
Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
DNA:mutations:multiple (human)
RGD
PMID:23188108
RGD:10045556
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
G
Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion:: (human)
RGD
PMID:20740495
RGD:12792229
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hoxc4
homeo box C4
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:17211587
RGD:10402180
NCBI chr 7:134,135,279...134,173,133
Ensembl chr 7:134,170,591...134,173,133
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Itgb1
integrin subunit beta 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
G
Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
G
Mid2
midline 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473
G
Nags
N-acetylglutamate synthase
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Pde4d
phosphodiesterase 4D
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
G
Plk2
polo-like kinase 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947
G
Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
G
Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
G
Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
PMID:28492532
NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
G
Tenm2
teneurin transmembrane protein 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr10:20,480,662...21,706,415
Ensembl chr10:20,481,854...21,705,597
G
Tent5a
terminal nucleotidyltransferase 5A
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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:11597388 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:16905680 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:25682074 PMID:25741868 PMID:25884701 PMID:25927356 PMID:26219728 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26687385 PMID:26786923 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28423363 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29625052 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30720243 PMID:30787465 PMID:31174498 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31837001 PMID:31957001 PMID:32029870 PMID:32101877 PMID:32190957 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32772980 PMID:32885271 PMID:33087929 PMID:33461583 PMID:33471991 PMID:34399810 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Brip1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20639400 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:32068069 PMID:32359370 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
G
Gli2
GLI family zinc finger 2
IEP
RGD
PMID:12947339
RGD:12801415
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
G
Nog
noggin
ISO ISS
OMIM:189960
MouseDO RGD
PMID:17260385
RGD:12801454
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
G
Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
G
Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:25003913
RGD:12801416
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
G
Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
G
Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
G
Dnajc19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
G
Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
G
Mrpl47
mitochondrial ribosomal protein L47
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994
G
Ndufb5
NADH:ubiquinone oxidoreductase subunit B5
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
G
Pex5l
peroxisomal biogenesis factor 5-like
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:115,694,868...115,908,365
Ensembl chr 2:115,700,972...115,913,628
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 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
G
Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
G
Sox2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:18385794 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:22421044 PMID:23701296 PMID:24498598 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 PMID:30450772 PMID:32870266 PMID:33914258 PMID:34367232 PMID:35885948 More...
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
G
Ttc14
tetratricopeptide repeat domain 14
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
G
Usp13
ubiquitin specific peptidase 13
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chr 2:115,576,912...115,689,153
Ensembl chr 2:115,577,091...115,686,222
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all