Foveal hypoplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| FOVEAL HYPOPLASIA 1 | C3805604 | PAX6 | 2855731, 17148041, 8640214, 9931324, 7550230 |
| ELP4 | |||
| FOVEAL HYPOPLASIA 2 | C3807873 | SLC38A8 | 24045842, 24290379 |
| Foveal Hypoplasia and Anterior Segment Dysgenesis | C1836603 | SLC38A8 | |
| FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING | C4017387 | SLC38A8 | |
| FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | C4017386 | SLC38A8 | |
| Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | 397618 | SLC38A8 |