# blepharophimosis, ptosis, and epicanthus inversus syndrome

> Human disease

**Wikidata**: [Q18554819](https://www.wikidata.org/wiki/Q18554819)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Blepharophimosis,_ptosis,_epicanthus_inversus_syndrome)  
**Source**: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome


## References

1. Disease Ontology
2. Wakayama Symposium: Notch-FoxL2-α-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
3. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types
4. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000183770/Orphanet_126)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)