loading...| Preferred Name |
Blepharophimosis, Ptosis, and Epicanthus Inversus |
|
| Synonyms |
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C562419 |
|
| altLabel |
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus Type II Blepharophimosis, Ptosis, and Epicanthus Inversus Type I Blepharophimosis Syndrome |
|
| cui |
C3714208 C0220663 |
|
| HM |
D016569 D014564 D012868 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D016569 |
|
| MDA |
20121105 |
|
| MeSH Frequency |
64 |
|
| MMR |
20150817 |
|
| notation |
C562419 |
|
| prefLabel |
Blepharophimosis, Ptosis, and Epicanthus Inversus |
|
| SC |
3 |
|
| Scope Statement |
A hereditary condition characterized by blepharophimosis, epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and PTOSIS of the eyelids. In addition, affected females may present with urogenital abnormalities, low ESTROGEN and PROGESTERONE, and infertility due to PREMATURE OVARIAN FAILURE in Type I BPES. Mutations in the FOXL2 gene have been identified. OMIM: 110100 |
|
| TERMUI |
T841035 T841037 T845456 T827344 T841036 |
|
| TH |
OMIM (2013) GHR (2014) |
|
| tui |
T047 |