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.
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)
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