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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 WITH ACHALASIA;   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: EFO:1001997;   GARD:457;   MONDO:0009279;   NCI:C35710


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia		 OMIM
CTD
ClinVar		 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: Glucocorticoid deficiency with achalasia 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 18969
    syndrome 10889
      triple-A syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              Pharyngeal Diseases 268
                Deglutition Disorders 85
                  dyskinesia of esophagus 75
                    achalasia 61
                      triple-A syndrome 2
paths to the root