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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:achalasia
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Accession:DOID:9164 term browser browse the term
Definition:An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. (DO)
Synonyms:exact_synonym: achalasia of cardia;   achalasia of esophagus;   achalasias;   cardiospasm;   cardiospasms;   esophageal achalasia;   esophageal achalasias;   hypertensive lower esophageal sphincter;   lack of reflex relaxation of lower oesophageal sphincter
 related_synonym: megaesophagus
 primary_id: MESH:D004931
 xref: ICD10CM:K22.0;   ICD9CM:530.0;   MONDO:0008698;   NCI:C84699


show annotations for term's descendants           Sort by:
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO RGD PMID:16098009 RGD:1598514 NCBI chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism, haplotype
DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)		 CTD
RGD		 PMID:11837716 PMID:24997987 PMID:30092016 PMID:30788115 RGD:14865011 RGD:14974238 RGD:5147806 NCBI chr12:2,305,307...2,307,711 JBrowse link
G LMNA lamin A/C ISO OMIM:200400 MouseDO NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO OMIM:200400 MouseDO NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO OMIM:200400 MouseDO NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878 		JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936 		JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAMP angio associated migratory cell protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887 		JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824 		JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885 		JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome OMIM
ClinVar		 PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137 		JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296 		JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar		 PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia OMIM
ClinVar		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094 		JBrowse link
G MYG1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr27:1,900,360...1,905,946
Ensembl chr27:1,900,360...1,905,931 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        Gastrointestinal Motility Disorders 75
          dyskinesia of esophagus 72
            achalasia 58
              Congenital Deafness, with Vitiligo and Achalasia 0
              Familial Esophageal Achalasia + 50
              Moyamoya Disease 6 with Achalasia 1
              achalasia microcephaly syndrome 0
              triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              Pharyngeal Diseases 263
                Deglutition Disorders 82
                  dyskinesia of esophagus 72
                    achalasia 58
                      Congenital Deafness, with Vitiligo and Achalasia 0
                      Familial Esophageal Achalasia + 50
                      Moyamoya Disease 6 with Achalasia 1
                      achalasia microcephaly syndrome 0
                      triple-A syndrome 2
paths to the root