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Echinobase
Summary Literature (0)
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 :


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