FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease XV ID (Ontology) DOID:0050579 (Human Disease)
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.
Also Known As "Glycogen storage disease 15" ; "glycogen storage disease type XV" ; "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"
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 Genes
 glycogen storage disease XV       1
 for disease ribbon | glycogen storage disease XV       1
 model of | glycogen storage disease XV       1
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease XV  1 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "Glycogen storage disease 15" EXACT
    "glycogen storage disease type XV" EXACT
    "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" EXACT
Secondary IDs
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MIM:613507
ORDO:263297