glycogen storage disease IXd
A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.
MONDO:0002412
disorder of glycogen metabolism
is_a
GSD IXd
exact
GSD Vb
related
GSD due to muscle phosphorylase kinase deficiency
exact
GSD type 9D
exact
GSD type IXd
exact
GSD9D
exact
PHKA1 glycogen storage disease
exact
PHKA1-related glycogen storage disease type IX
exact
glycogen storage disease caused by mutation in PHKA1
exact
glycogen storage disease due to muscle phosphorylase kinase deficiency
exact
glycogen storage disease type 9D
exact
glycogen storage disease type IXd
exact
glycogen storage disease, type IXd
related
glycogenosis due to muscle phosphorylase kinase deficiency
exact
glycogenosis type 9D
exact
glycogenosis type IXd
exact
muscle glycogenosis, X-linked recessive
exact
muscle phosphorylase kinase deficiency
exact
muscular phosphorylase kinase deficiency
related