# achondroplasia

> osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones

**Wikidata**: [Q340594](https://www.wikidata.org/wiki/Q340594)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Achondroplasia)  
**Source**: https://4ort.xyz/entity/achondroplasia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Nuovo soggettario
4. Freebase Data Dumps. 2013
5. [Source](http://www.patient.co.uk/patientplus/a.htm)
6. BBC Things
7. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
8. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. Quora
11. KBpedia
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)