has material basis in germline mutation in PYGM disorder of glycogen metabolism glycogen storage disease V https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/glycogen_storage_disease_v Mcardle disease McArdle disease GSD type 5 Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. NCIT:C84738 PYGM glycogen storage disease glycogenosis type 5 OMIM:232600 MONDO:0009293 NANDO:2200541 GSD type V MESH:D006012 glycogenosis due to muscle glycogen phosphorylase deficiency MEDGEN:5341 MedDRA:10018462 glycogen storage disease caused by mutation in PYGM GARD:0006528 McArdle type glycogen storage disease glycogen storage disease type V DOID:2746 glycogenosis type V NANDO:1200828 UMLS:C0017924 GSD5 GSD due to muscle glycogen phosphorylase deficiency glycogen storage disease type 5 ICD10CM:E74.04 myophosphorylase deficiency glycogen storage disease V Orphanet:368 SCTID:55912009