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Disease Ontology Browser
glycogen storage disease XV (DOID:0050579)
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Synonyms: Glycogen storage disease 15; glycogen storage disease type XV; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Alt IDs: OMIM:613507, ORDO:263297
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory