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expanddisease of catalytic activity (MONDO:0044976)
Parent Node:
expandglycogen storage disease (MONDO:0002412)
..Starting node
..expandglycogen storage disease due to phosphorylase kinase deficiency ()

       Child Nodes:
........expandglycogen storage disease due to liver phosphorylase kinase deficiency ()
........expandglycogen storage disease IXb ()
........expandglycogen storage disease IXd ()



 Sister Nodes: 
..expandDanon disease ()
..expandglycogen storage disease due to aldolase A deficiency ()
..expandglycogen storage disease due to GLUT2 deficiency ()
..expandglycogen storage disease due to glycogen branching enzyme deficiency ()
..expandglycogen storage disease due to glycogen synthase deficiency ()
..expandglycogen storage disease due to lactate dehydrogenase deficiency ()
..expandglycogen storage disease due to muscle beta-enolase deficiency ()
..expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
..expandglycogen storage disease due to phosphoglycerate mutase deficiency ()
..expandglycogen storage disease due to phosphorylase kinase deficiency ()
..expandglycogen storage disease I ()
..expandglycogen storage disease II ()
..expandglycogen storage disease III ()
..expandglycogen storage disease V ()
..expandglycogen storage disease VI ()
..expandglycogen storage disease VII ()
..expandglycogen storage disease VIII ()
..expandglycogen storage disease XV ()
..expandlethal congenital glycogen storage disease of heart ()
..expandpolyglucosan body myopathy type 1 ()
..expandpolyglucosan body myopathy type 2 ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18251
Name:glycogen storage disease due to phosphorylase kinase deficiency
Definition:Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).
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Synonyms:glycogen storage disease due to PhK deficiency; glycogen storage disease IX; glycogen storage disease type 9; glycogen storage disease type IX; glycogenosis due to phosphorylase kinase deficiency; glycogenosis type 9; glycogenosis type IX; GSD due to phosphorylase kinase deficiency; GSD IX; GSD type
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