# Diaphanospondylodysostosis

> Human disease

**Wikidata**: [Q22672486](https://www.wikidata.org/wiki/Q22672486)  
**Source**: https://4ort.xyz/entity/diaphanospondylodysostosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164619/MONDO_0011946)