| 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 |
SNOMEDCT_US_2023_03_01:41527003 |
| Synonyms |
Glycogen storage disease 8 [EXACT] glycogen storage disease type VIII [EXACT] glycogenosis type VIII [EXACT] hepatic glycogen phosphorylase kinase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |