| Metadata | |
|---|---|
| ID | DOID:2752 |
| PURL | http://purl.obolibrary.org/obo/DOID_2752 Copy |
| Name | glycogen storage disease II |
| Definition | A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features. https://pubmed.ncbi.nlm.nih.gov/6360103/ |
| 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 disease [EXACT] Pompe's disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |