# alpha-mannosidosis

> lysosomal storage disease that has material basis in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome

**Wikidata**: [Q250449](https://www.wikidata.org/wiki/Q250449)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Alpha-mannosidosis)  
**Source**: https://4ort.xyz/entity/alpha-mannosidosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104774/MONDO_0009561)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)