loading...| Preferred Name |
triple-A syndrome |
| Synonyms |
Achalasia-Addisonianism-Alacrimia syndrome |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050602 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:231550 GARD:457 |
| 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. |
| has exact synonym |
Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome AAAS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050602 |
| in_subset | |
| label |
triple-A syndrome |
| notation |
DOID:0050602 |
| prefLabel |
triple-A syndrome |
| subClassOf |