| Metadata | |
|---|---|
| ID | DOID:0081329 |
| Name | glycogen storage disease I |
| Definition | A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, https://www.ncbi.nlm.nih.gov/books/NBK1312/, https://www.omim.org/entry/232200#33 |
| Xrefs |
SNOMEDCT_US_2023_03_01:7265005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of glucose-6-phosphatase [EXACT] Glycogen storage disease 1 [EXACT] glycogen storage disease type I [EXACT] glycogenosis type I [EXACT] von Gierke disease [EXACT] von Gierke's disease [EXACT] |
| Parent Relationships |