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DOID:0050602 - triple-A syndrome
Disease Ontology 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.
Synonyms: Achalasia-Addisonianism-Alacrimia syndrome, Allgrove Syndrome, AAAS
Echinobase Genes
:
aaas
| MIM:231550 - achalasia-addisonianism-alacrima syndrome; aaas |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)