# acatalasia

> Human disease

**Wikidata**: [Q3273331](https://www.wikidata.org/wiki/Q3273331)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Acatalasia)  
**Source**: https://4ort.xyz/entity/acatalasia


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Molecular analysis of human acatalasemia. Identification of a splicing mutation
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000121691/EFO_0004144)
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
6. UMLS 2023