# multiple pterygium syndrome

> Human disease

**Wikidata**: [Q16889762](https://www.wikidata.org/wiki/Q16889762)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Autosomal_dominant_multiple_pterygium_syndrome)  
**Source**: https://4ort.xyz/entity/multiple-pterygium-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
5. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196811/MONDO_0009926)
7. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
8. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)