# otospondylomegaepiphyseal dysplasia

> osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss

**Wikidata**: [Q7109017](https://www.wikidata.org/wiki/Q7109017)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia)  
**Source**: https://4ort.xyz/entity/otospondylomegaepiphyseal-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/27b13a91-0a04-4393-bf1c-4f8418154c9b--2018-12-20T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/177bddd8-0566-4f80-a9f1-679ca96a7c60--2018-12-20T17:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_177bddd8-0566-4f80-a9f1-679ca96a7c60-2018-12-20T170000.000Z)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27b13a91-0a04-4393-bf1c-4f8418154c9b-2018-12-20T170000.000Z)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. UMLS 2023