| Metadata | |
|---|---|
| ID | DOID:2754 |
| Name | glycogen storage disease VI |
| Definition | A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI, http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi, https://pubmed.ncbi.nlm.nih.gov/25266922/, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:29291001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Glycogen storage disease 6 [EXACT] glycogen storage disease type VI [EXACT] hepatic glycogen phosphorylase deficiency [EXACT] hepatophosphorylase deficiency glycogenosis [EXACT] Hers' disease [EXACT] |
| Parent Relationships |