has material basis in germline mutation in PHKA2 disorder of glycogen metabolism glycogen storage disease IXa1 https://github.com/monarch-initiative/mondo/issues/2128 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8 https://www.malacards.org/card/glycogen_storage_disease_ixa https://www.malacards.org/card/glycogen_storage_disease_ixa1 https://www.malacards.org/card/glycogen_storage_disease_viii glycogen storage disease, type IXa2, X-linked recessive MESH:D006015 GSD9A1 hepatic phosphorylase kinase deficiency DOID:0111042 UMLS:C3694531 MONDO:0010598 MEDGEN:854172 phosphorylase kinase deficiency of liver NANDO:2201164 glycogenosis type 8 glycogen storage disease type IXa glycogen storage disease VIII glycogen storage disease caused by mutation in PHKA2 PHKA2 glycogen storage disease glycogenosis type IXa OMIM:306000 DOID:2751 PHKA2-related glycogen storage disease type IX glycogen storage disease type VIII MedDRA:10053242 GARD:0018386 glycogen storage disease type 9A SCTID:41527003 glycogen storage disease IXa1 PYKL Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. NANDO:1200847 MESH:C564421 glycogen storage disease 8 glycogenosis type 9A glycogen storage disease, type IXa1, X-linked recessive glycogen storage disease IXa glycogen storage disease due to liver phosphorylase kinase deficiency glycogen storage disease IX