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Metadata
ID DOID:2751
Name glycogen storage disease VIII
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.
https://pubmed.ncbi.nlm.nih.gov/2558039/
Xrefs

MESH:D006015

SNOMEDCT_US_2023_03_01:41527003

UMLS_CUI:C0017927

Synonyms

Glycogen storage disease 8 [EXACT]

glycogen storage disease type VIII [EXACT]

glycogenosis type VIII [EXACT]

hepatic glycogen phosphorylase kinase deficiency [EXACT]

Parent Relationships

is_a glycogen storage disease

is_a X-linked recessive disease

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