# aspartylglucosaminuria

> disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues

**Wikidata**: [Q4412533](https://www.wikidata.org/wiki/Q4412533)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Aspartylglucosaminuria)  
**Source**: https://4ort.xyz/entity/aspartylglucosaminuria


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
3. Disease Ontology
4. UniProt
5. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
6. Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000038002/MONDO_0008830)
8. YSO-Wikidata mapping project
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. Human Phenotype Ontology release 2018-03-08
11. National Library of Israel Names and Subjects Authority File