# glycogen storage disease IXb

> Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term).

**Wikidata**: [Q32146394](https://www.wikidata.org/wiki/Q32146394)  
**Source**: https://4ort.xyz/entity/glycogen-storage-disease-ixb


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102893/MONDO_0009868)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)