Human genes for triple-A syndrome
triple-A syndrome [DOID:0050602]
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.
Synonyms: triple-A syndrome, DOID:0050602, tripleA syndrome, triple-A disease, triple-A disorder ...
Linkouts: OMIM