# pycnodysostosis

> osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges

**Wikidata**: [Q974928](https://www.wikidata.org/wiki/Q974928)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pycnodysostosis)  
**Source**: https://4ort.xyz/entity/pycnodysostosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143387/MONDO_0009940)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
8. GF WordNet