※ PTMD 2.0 database Online Browse Options
Browse result for Blepharophimosis
※ introduction Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
Reference
Wiki: Blepharophimosis
Reference
Wiki: Blepharophimosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01677 | P58012 | 668 | FOXL2 | Forkhead box protein L2 | Homo sapiens |
