# Tay-Sachs disease

> Human medical condition

**Wikidata**: [Q560337](https://www.wikidata.org/wiki/Q560337)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Tay–Sachs_disease)  
**Source**: https://4ort.xyz/entity/tay-sachs-disease


## References

1. [Nuovo soggettario](https://thes.bncf.firenze.sbn.it/termine.php?id=58018)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. Nuovo soggettario
5. Freebase Data Dumps. 2013
6. Online Mendelian Inheritance in Man
7. [Source](http://www.patient.co.uk/patientplus/t.htm)
8. UniProt
9. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1f7530b5-af31-40f9-ac18-a1b4d404285a--2020-05-27T16:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f7530b5-af31-40f9-ac18-a1b4d404285a-2020-05-27T160000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000213614/MONDO_0010100)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. UMLS 2023
15. Quora
16. National Library of Israel
17. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)