| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). (Orphanet Rare Disease Ontology, Orphanet_53540) |
| External Link | http://www.omim.org/entry/268100 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the enhanced s-cone syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| NR2E3 | nuclear receptor subfamily 2, group E, member 3 |
