OBO ID: DOID:0050602
Term Name: triple-A syndrome Search Ontology:
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 )
OTHER triple-A syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AAAS Achalasia-addisonianism-alacrimia syndrome 231550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None