Glycogen Storage Disease Type Ii
Disease ID: disease_node_3516
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| Dbxref | GARD:5714, ICD10CM:E74.02, MESH:D006009, MIM:232300, NCI:C84734, SNOMEDCT_US_2023_03_01:237967002, UMLS_CUI:C0017921 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Generalized glycogenosis, Glycogen storage disease 2, Glycogen storage disease, type II, Glycogenosis, type 2, Lysosomal alpha-1,4-glucosidase deficiency, Pompe's disease, acid maltase deficiency, deficiency of glucoamylase, deficiency of maltase, glycogen storage disease type II |
| Mesh Id | D006009 |
| Mesh Label | Glycogen Storage Disease Type II |
| Mesh Subclassof | D020140, D006008 |
| Doid Label | glycogen storage disease II |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3516 |
| Doid Id | DOID_2752 |
| Label | Glycogen Storage Disease Type Ii |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease)