Search Ontology:
Human Disease
triple-A syndrome
- Term ID
- DOID:0050602
- Synonyms
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- 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
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- GARD:457
- MIM:231550
- Ontology
- Human Disease ( DOID:0050602 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models