| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root (Mammalian Phenotype Ontology, MP_0010471) |
| External Link | http://www.omim.org/entry/185500 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the supravalvar aortic stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ELN | elastin |
