Blepharophimosis-ptosis-epicanthus inversus syndrome

Disease Term Disease ID Gene Symbol Classification References Source
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
110100C0220663MESH:C562419
FOXL2 Unknown — CTD Disgenet HPO
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
MONDO:0007201
FOXL2 Causal
21325395 12567411 11776388 12938087 12400065 11175783 12529855 12630957 17089161 11468277
ClinVar GWAS catalog
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME PLUS
572333
FOXL2 Unknown
21934608 24725350 25032695
Orphanet
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME TYPE 1
572354
FOXL2 Unknown
30029625 31823134
Orphanet
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME TYPE 2
572361
FOXL2 Unknown
30029625 31823134
Orphanet
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME WITHOUT PREMATURE OVARIAN FAILURE
C5680363
FOXL2 Unknown — Disgenet