# diastrophic dysplasia

> osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism

**Wikidata**: [Q3335666](https://www.wikidata.org/wiki/Q3335666)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Diastrophic_dysplasia)  
**Source**: https://4ort.xyz/entity/diastrophic-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/311c9799-169e-4409-98bd-74b6d414904c--2020-06-08T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/311c9799-169e-4409-98bd-74b6d414904c--2020-06-01T16:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_311c9799-169e-4409-98bd-74b6d414904c-2020-06-01T160000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000155850/MONDO_0009107)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000155850/Orphanet_628)
11. YSO-Wikidata mapping project
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)