| Metadata | |
|---|---|
| ID | DOID:2752 |
| Name | glycogen storage disease II |
| Definition | A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II |
| Xrefs |
SNOMEDCT_US_2023_03_01:237967002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acid maltase deficiency [EXACT] deficiency of glucoamylase [EXACT] deficiency of maltase [EXACT] Generalized glycogenosis [EXACT] Glycogen storage disease 2 [EXACT] glycogen storage disease type II [EXACT] Glycogen storage disease, type II [EXACT] Glycogenosis, type 2 [EXACT] Lysosomal alpha-1,4-glucosidase deficiency [EXACT] Pompe's disease [EXACT] |
| Parent Relationships |