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Metadata
DOID DOID:0050602
Name triple-A syndrome
Definition An autosomal recessive disease 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
Synonyms

Achalasia-Addisonianism-Alacrimia syndrome [EXACT]

Allgrove Syndrome [EXACT]

Xrefs

GARD:457

OMIM:231550

Relationships

is_a autosomal recessive disease

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