glycogen storage disease XV

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:613507 - glycogen storage disease xv; gsd15

MIM:613507 - glycogen storage disease xv; gsd15

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), glycogen storage disease (is_a)