# glycogen storage disease IXa

> human disease

**Wikidata**: [Q32146408](https://www.wikidata.org/wiki/Q32146408)  
**Source**: https://4ort.xyz/entity/glycogen-storage-disease-ixa


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
5. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)