| Label | Id | |
|---|---|---|
| SCA23 spinocerebellar ataxia 23 | C537201 | |
| blepharophimosis, ptosis, epicanthus inversus with ovarian failure | 7201 | |
| polymicrogyria, bilateral occipital | C567201 | |
| blepharophimosis-epicanthus inversus-ptosis syndrome | 7201 | |
| BPES with premature ovarian failure | 7201 | |
| BPES with ovarian failure | 7201 | |
| BPES without ovarian failure | 7201 | |
| bilateral occipital polymicrogyria | C567201 | |
| blepharophimosis syndrome type 1 | 7201 |