# Van den Ende-Gupta syndrome

> Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features

**Wikidata**: [Q9390616](https://www.wikidata.org/wiki/Q9390616)  
**Source**: https://4ort.xyz/entity/van-den-ende-gupta-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000244486/MONDO_0010959)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)