# glycogen storage disease IXd

> glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material basis in mutation in the PHKA1 gene on chromosome Xq13

**Wikidata**: [Q32146382](https://www.wikidata.org/wiki/Q32146382)  
**Source**: https://4ort.xyz/entity/glycogen-storage-disease-ixd


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000067177/MONDO_0010362)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)