# ataxia telangiectasia

> a rare, neurodegenerative, autosomal recessive human disease causing severe disability

**Wikidata**: [Q387082](https://www.wikidata.org/wiki/Q387082)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ataxia–telangiectasia)  
**Source**: https://4ort.xyz/entity/ataxia-telangiectasia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Ataxia telangiectasia: a review
5. UniProt
6. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/02a69e27-77dc-41bd-83d2-dda9c224ee43--2020-07-30T21:09:32)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02a69e27-77dc-41bd-83d2-dda9c224ee43-2020-07-30T210932.329Z)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02a69e27-77dc-41bd-83d2-dda9c224ee43-2021-07-27T205239.729Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000149311/MONDO_0008840)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000149311/Orphanet_100)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)