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triple-A syndrome

http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

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Term info

Label

triple-A syndrome

Synonyms

AAAS
Achalasia-Addisonianism-Alacrimia syndrome
Allgrove Syndrome

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0050602

Term relations

Subclass of:

autosomal recessive disease
syndrome
has material basis in some autosomal recessive inheritance