Search Ontology:
Human Disease

triple-A syndrome

Term ID
DOID:0050602
Synonyms
  • AAAS
  • Achalasia-Addisonianism-Alacrimia syndrome
  • Allgrove 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
References
Ontology
Human Disease   ( DOID:0050602 )
Relationships
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Genes Involved
Zebrafish Models