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ONTOLOGY REPORT - ANNOTATIONS


Term:achalasia
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Accession:DOID:9164 term browser browse the term
Definition:A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
Synonyms:exact_synonym: Cardiospasm;   Cardiospasms;   Esophageal Achalasia;   Esophageal Achalasias;   achalasia of cardia;   achalasia of esophagus;   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;   NCI:C84699
For additional species annotation, visit the Alliance of Genome Resources.


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achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:1598514
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:13592920
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:13592920
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147806
RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147806
RGD:14974238
RGD:14865011
RGD:11554173
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:13592920
G Vipr1 vasoactive intestinal peptide receptor 1 JBrowse link 8 130,283,453 130,313,431 RGD:5685626
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:7240710
RGD:8554872
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 2 181,045,694 181,103,321 RGD:8554872
RGD:7240710
triple-A syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:7240710
RGD:8554872
RGD:11554173
G Myg1 MYG1 exonuclease JBrowse link 7 143,929,662 143,936,865 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15850
    disease of anatomical entity 15241
      gastrointestinal system disease 4573
        esophageal disease 406
          dyskinesia of esophagus 19
            achalasia 10
              Alacrima, Achalasia, and Mental Retardation Syndrome 1
              Congenital Deafness, with Vitiligo and Achalasia 0
              Familial Esophageal Achalasia + 1
              Moyamoya Disease 6 with Achalasia 1
              achalasia microcephaly syndrome 0
              triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 15850
    disease of anatomical entity 15241
      nervous system disease 10709
        sensory system disease 4938
          Otorhinolaryngologic Diseases 1091
            Pharyngeal Diseases 162
              Deglutition Disorders 26
                dyskinesia of esophagus 19
                  achalasia 10
                    Alacrima, Achalasia, and Mental Retardation Syndrome 1
                    Congenital Deafness, with Vitiligo and Achalasia 0
                    Familial Esophageal Achalasia + 1
                    Moyamoya Disease 6 with Achalasia 1
                    achalasia microcephaly syndrome 0
                    triple-A syndrome 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.