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DOID:0050579 - glycogen storage disease XV
Disease Ontology 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.
Synonyms: Glycogen storage disease 15, Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency, glycogen storage disease type XV,
Echinobase Genes :
MIM:613507 - glycogen storage disease xv; gsd15 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee