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ONTOLOGY REPORT - ANNOTATIONS
Term:triple-A syndrome
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Accession:DOID:0050602 term browser browse the term
Definition:An autosomal recessive disease 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-Addisonianism-Alacrima 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;   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;   RDO:0001414
 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 melanocyte proliferating gene 1 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 15619
    syndrome 5154
      triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            Pharyngeal Diseases 158
              Deglutition Disorders 26
                dyskinesia of esophagus 19
                  achalasia 10
                    triple-A syndrome 2
paths to the root

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