# Eiken syndrome

> a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family

**Wikidata**: [Q17119158](https://www.wikidata.org/wiki/Q17119158)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Eiken_syndrome)  
**Source**: https://4ort.xyz/entity/eiken-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)