# cystinosis

> lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes

**Wikidata**: [Q1149042](https://www.wikidata.org/wiki/Q1149042)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cystinosis)  
**Source**: https://4ort.xyz/entity/cystinosis


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. NDF-RT
5. [Inxight: Drugs Database](https://drugs.ncats.io/drug/5UX2SD1KE2)
6. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin
7. BabelNet
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. UMLS 2023
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)