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
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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

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Path 1
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  disease 14823
    syndrome 4218
      triple-A syndrome 2
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          Otorhinolaryngologic Diseases 1038
            Pharyngeal Diseases 157
              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.