has material basis in germline mutation in GAA disorder of glycogen metabolism glycogen storage disease II https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/pompe_disease glycogen storage disease caused by mutation in GAA deficiency of alpha-glucosidase MEDGEN:5340 GSD type 2 acid maltase deficiency SCTID:274864009 MedDRA:10053185 NCIT:C84734 acid maltase deficiency disease GSD due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. glycogen storage disease type II GSD II UMLS:C0017921 NANDO:1200138 GARD:0005714 Aglucosidase alfa ICD10CM:E74.02 GSD2 NORD:1595 Pompe disease MONDO:0009290 glycogenosis type 2 GSD type II Orphanet:365 NANDO:1200825 glycogenosis type II generalised glycogenosis Alpha-1,4-glucosidase acid deficiency DOID:2752 Pompe Disease deficiency of lysosomal alpha-glucosidase icd11.foundation:1427054474 glycogen storage disease type 2 NANDO:2200569 GAA glycogen storage disease glycogen storage disease II glycogenosis due to acid maltase deficiency glucosidase acid-1,4-alpha deficiency familial restrictive cardiomyopathy lysosomal glycogen storage disease