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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;   achalasia-addisonianism-alacrima 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
 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: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Alacrima-achalasia-adrenal insufficiency neurologic disorder | ClinVar Annotator: match by term: Allgrove syndrome | ClinVar Annotator: match by term: Hypoadrenalism with achalasia | ClinVar Annotator: match by term: Triple-A syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome ClinVar NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1557
            Pharyngeal Diseases 258
              Deglutition Disorders 83
                dyskinesia of esophagus 73
                  achalasia 61
                    triple-A syndrome 2
paths to the root