# multiple epiphyseal dysplasia

> osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain

**Wikidata**: [Q1452604](https://www.wikidata.org/wiki/Q1452604)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia)  
**Source**: https://4ort.xyz/entity/multiple-epiphyseal-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
5. COL9A3: A third locus for multiple epiphyseal dysplasia
6. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)