# lethal congenital glycogen storage disease of heart

> glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36

**Wikidata**: [Q30988797](https://www.wikidata.org/wiki/Q30988797)  
**Source**: https://4ort.xyz/entity/lethal-congenital-glycogen-storage-disease-of-heart


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. When self-determination runs amok
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106617/MONDO_0009867)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)