has material basis in germline mutation in disease disrupts disease causes disruption of PHKA1 phosphorylase kinase activity disorder of glycogen metabolism glycogen storage disease IXd https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency https://www.malacards.org/card/glycogen_storage_disease_ixd MEDGEN:335112 PHKA1-related glycogen storage disease type IX muscle phosphorylase kinase deficiency glycogen storage disease type 9D GSD due to muscle phosphorylase kinase deficiency GSD type IXd MESH:C564485 glycogen storage disease due to muscle phosphorylase kinase deficiency GSD Vb NANDO:2201167 GSD type 9D DOID:0111040 glycogen storage disease caused by mutation in PHKA1 MONDO:0010362 glycogenosis type IXd GARD:0003858 glycogen storage disease type IXd muscular phosphorylase kinase deficiency glycogen storage disease, type IXd muscle glycogenosis, X-linked recessive Orphanet:715 UMLS:C1845151 glycogenosis type 9D GSD9D glycogenosis due to muscle phosphorylase kinase deficiency OMIM:300559 NANDO:1200830 A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. PHKA1 glycogen storage disease GSD IXd