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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:Gastrointestinal Motility Disorders
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Accession:DOID:9000924 term browser browse the term
Definition:Disorders affecting the motor function of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
Synonyms:narrow_synonym: ESOPHAGEAL AND COLONIC DYSMOTILITY
 primary_id: RDO:9002044
For additional species annotation, visit the Alliance of Genome Resources.

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Gastrointestinal Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Esophageal and colonic dysmotility ClinVar PMID:18391202 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Esophageal and colonic dysmotility ClinVar PMID:18391202 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin susceptibility ISO RGD PMID:16098009, PMID:16098009 RGD:1598514, RGD:1598514 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668 		JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:24997987, PMID:11837716 RGD:5147806 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)
DNA:polymorphism, haplotype
CTD Direct Evidence: marker/mechanism		 CTD PMID:24997987, PMID:11837716, PMID:30788115, PMID:30092016 RGD:5147806, RGD:14974238, RGD:14865011 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:130,283,453...130,313,431 JBrowse link
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510		 OMIM
ClinVar		 PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Acid reflux ClinVar PMID:25741868 NCBI chr19:54,843,864...55,083,935 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 ClinVar
OMIM		 PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918 		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: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome
ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231550
ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome		 OMIM
ClinVar
CTD		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12752575 PMID:15173230 PMID:15666842 PMID:16609705 PMID:17853339 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:22538409 PMID:23315990 PMID:25741868 PMID:26595337 PMID:27133709 PMID:27414811 PMID:28492532 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668 		JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar NCBI chr 7:143,929,662...143,936,865
Ensembl chr 7:143,929,662...143,936,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      gastrointestinal system disease 5751
        Gastrointestinal Diseases 3801
          Gastrointestinal Motility Disorders 23
            dyskinesia of esophagus + 20
paths to the root