| Metadata | |
|---|---|
| ID | DOID:0050602 |
| Name | triple-A syndrome |
| 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. https://ghr.nlm.nih.gov/condition/triple-a-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AAAS [EXACT] Achalasia-Addisonianism-Alacrimia syndrome [EXACT] Allgrove Syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |