Blepharophimosis, ptosis, and epicanthus inversus syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Blepharophimosis syndrome type 1 | C2931135 | FOXL2 | 21889601, 20429427, 16219626 |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | C0220663 | FOXL2 | 18372316, 17089161, 12938087, 11175783, 15257268, 11468277, 12529855, 18642388, 19429596, 18484667, 16454982, 12630957, 12400065 |
| Blepharophimosis, Ptosis, and Epicanthus Inversus Type II | C3714208 | FOXL2 | |
| Blepharophimosis-ptosis-epicanthus inversus syndrome plus | 572333 | FOXL2 | |
| Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | 572354 | FOXL2 | |
| Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | 572361 | FOXL2 | |
| Bpes, Type I, Autosomal Recessive | C1970106 | FOXL2 | 16283882 |