# Machado-Joseph disease

> autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene

**Wikidata**: [Q3026441](https://www.wikidata.org/wiki/Q3026441)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Machado–Joseph_disease)  
**Source**: https://4ort.xyz/entity/machado-joseph-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
6. BabelNet
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
8. UMLS 2023
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)