Search Ontology:
Human Disease
glycogen storage disease XV
- Term ID
- DOID:0050579
- Synonyms
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- 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
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- MIM:613507
- ORDO:263297
- Ontology
- Human Disease ( DOID:0050579 )
- is a type of
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