# multiple epiphyseal dysplasia, Beighton type

> Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits

**Wikidata**: [Q55780563](https://www.wikidata.org/wiki/Q55780563)  
**Source**: https://4ort.xyz/entity/multiple-epiphyseal-dysplasia-beighton-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007562)
5. UMLS 2023