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Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset (MONDO:0018485)

Open Trait in OLS

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.

Overview

Category

musculoskeletal system disorder

cardiovascular disorder

Ontology ID

Internal:18523

Synonyms

Alpha-1,4-glucosidase acid deficiency, late onset

Alpha-1,4-glucosidase acid deficiency, late-onset

GSD due to acid maltase deficiency, late onset

GSD due to acid maltase deficiency, late-onset

GSD type 2, late onset

GSD type 2, late-onset

GSD type II, late onset

GSD type II, late-onset

LOPD

Pompe disease, late onset

Pompe disease, late-onset

glycogen storage disease type 2, late onset

glycogen storage disease type 2, late-onset

glycogen storage disease type II, late onset

glycogen storage disease type II, late-onset

glycogenosis type 2, late onset

glycogenosis type 2, late-onset

glycogenosis type II, late onset

glycogenosis type II, late-onset

Mapped terms

GARD:0021746

MEDGEN:575206

OMIM:621314

Orphanet:420429

SCTID:722343009

UMLS:C0342753

Child terms

Unknown children.