Terminology Service for NFDI4Health
glycogen storage disease II
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http://purl.obolibrary.org/obo/DOID_2752
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://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
glycogen storage disease II
Synonyms
- Generalized glycogenosis
- 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
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
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disease_ontology
id
DOID:2752