loading...| Preferred Name |
Triple A Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35710 |
| ALT_DEFINITION |
An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. |
| code |
C35710 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. |
| FULL_SYN |
3A syndrome Triple A Syndrome Triple-A syndrome Allgrove Syndrome Achalasia-Addisonianism-Alacrima Syndrome |
| label |
Triple A Syndrome |
| Legacy Concept Name |
Allgrove_Syndrome |
| NCI_META_CUI |
CL513381 |
| Preferred_Name |
Triple A Syndrome |
| prefixIRI |
Thesaurus:C35710 |
| prefLabel |
Triple A Syndrome |
| Semantic_Type |
Disease or Syndrome |
| subClassOf |