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 VIII ID (Ontology) DOID:2751 (Human Disease)
Definition A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
Also Known As "Glycogen storage disease 8" ; "glycogen storage disease type VIII" ; "glycogenosis type VIII" (for all, see Synonyms field below)
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DO.org
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glycogen metabolism disorder
 |__glycogen storage disease____
X-linked monogenic disease      |
 |__X-linked recessive disease__|
                                glycogen storage disease VIII
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Is a X-linked recessive disease
glycogen storage disease
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Synonyms
  • "Glycogen storage disease 8" EXACT
    "glycogen storage disease type VIII" EXACT
    "glycogenosis type VIII" EXACT
    "hepatic glycogen phosphorylase kinase deficiency" EXACT
Secondary IDs
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MESH:D006015
SNOMEDCT_US_2023_03_01:41527003
UMLS_CUI:C0017927