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ONTOLOGY REPORT - ANNOTATIONS


Term:triple-A syndrome
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Accession:DOID:0050602 term browser browse the term
Definition:A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO)
Synonyms:exact_synonym: AAA syndrome;   AAAS;   ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME;   Achalasia Addisonianism Alacrimia Syndrome;   Achalasia alacrimia syndrome;   Achalasia-Addisonian Syndrome;   Achalasia-Alacrima Syndrome;   Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima;   Alacrima-Achalasia-Addisonianism;   Alacrima-achalasia-adrenal insufficiency neurologic disorder;   Allgrove syndrome;   Glucocorticoid deficiency and achalasia;   achalasia-addisonianism-alacrima Syndrome;   hypoadrenalism with achalasia;   infantile achalasia with alacrima
 narrow_synonym: ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME
 primary_id: MESH:C536008
 alt_id: OMIM:231550
 xref: GARD:457
For additional species annotation, visit the Alliance of Genome Resources.


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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

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  disease 15851
    syndrome 6064
      triple-A syndrome 2
Path 2
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  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        sensory system disease 4944
          Otorhinolaryngologic Diseases 1094
            Pharyngeal Diseases 163
              Deglutition Disorders 27
                dyskinesia of esophagus 20
                  achalasia 10
                    triple-A syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.