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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: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;   NCI:C35710
For additional species annotation, visit the Alliance of Genome Resources.

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triple-A syndrome term browser
Symbol Object Name 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 OMIM:231550
ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA		 OMIM
ClinVar
CTD		 PMID:1537368, PMID:6243664, PMID:11062474, PMID:11159947, PMID:11701718, PMID:11914417, PMID:12429595, PMID:12752575, PMID:15173230, PMID:15666842, PMID:16098009, PMID:16609705, PMID:17853339, PMID:18261130, PMID:18414213, PMID:18615337, PMID:18628786, PMID:22538409, PMID:23315990, PMID:25741868, PMID:26595337, PMID:26622478, PMID:27133709, PMID:27414811, PMID:28492532, PMID:30311386 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 16045
    syndrome 6991
      triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            Pharyngeal Diseases 172
              Deglutition Disorders 34
                dyskinesia of esophagus 26
                  achalasia 10
                    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.