blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).
MONDO:0015217
obsolete non-syndromic developmental defect of the eye (obsolete MONDO:0015217)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0008537
telecanthus
is_a
MONDO:0019852
inherited primary ovarian failure
is_a
BPES
exact
BPES type 1
related
BPES with premature ovarian failure
related
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
exact
blepharophimosis syndrome type 1
related
blepharophimosis types 1 and 2
exact
blepharophimosis, epicanthus inversus, and ptosis, type 1
exact
blepharophimosis, epicanthus inversus, and ptosis, type 2
exact
blepharophimosis, ptosis, and epicanthus inversus
exact
blepharophimosis, ptosis, and epicanthus inversus syndrome
exact
blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
related
blepharophimosis, ptosis, epicanthus inversus syndrome
exact
blepharophimosis, ptosis, epicanthus inversus with ovarian failure
related
blepharophimosis-epicanthus inversus-ptosis syndrome
exact