glycogen storage disease XV

Term ID

DOID:0050579

Synonyms

• Glycogen storage disease 15
• glycogen storage disease type XV
• Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Definition

A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. https://www.omim.org/entry/613507

References

• OMIM:613507
• ORDO:263297

Ontology

Human Disease   ( DOID:0050579 )