Triple-A Syndrome
Disease ID: disease_node_20363
Connections displayed (default: 10).
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| Dbxref | GARD:457, MIM:231550 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | AAAS, Achalasia-Addisonianism-Alacrimia syndrome, Allgrove Syndrome |
| Doid Label | triple-A syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20363 |
| Doid Id | DOID_0050602 |
| Label | Triple-A Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)