# tuberous sclerosis

> rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

**Wikidata**: [Q1362721](https://www.wikidata.org/wiki/Q1362721)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Tuberous_sclerosis)  
**Source**: https://4ort.xyz/entity/tuberous-sclerosis


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study
6. [Source](http://www.patient.co.uk/patientplus/t.htm)
7. Klinická neurologie část speciální
8. A de novo frame-shift mutation in the tuberin gene
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/0b0a33ff-44ca-497c-8499-cc1f50cead93--2019-01-23T17:00:00)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0a33ff-44ca-497c-8499-cc1f50cead93-2019-01-23T170000.000Z)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103197/MONDO_0001734)
12. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
13. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/61b07bb0-1385-4344-8b6c-571f6a271000--2019-01-23T17:00:00)
14. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b07bb0-1385-4344-8b6c-571f6a271000-2019-01-23T170000.000Z)
15. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165699/MONDO_0001734)
16. YSO-Wikidata mapping project
17. BabelNet
18. [Identifiers.org](https://registry.identifiers.org/registry/doid)
19. Human Phenotype Ontology release 2018-03-08
20. Quora
21. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)