glycogen storage disease IXb
A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
MONDO:0700291
glycogen storage disease IX
is_a
GSD IXb
exact
GSD due to liver and muscle phosphorylase kinase deficiency
exact
GSD type 9B
exact
GSD type IXb
exact
GSD9B
exact
PHKB glycogen storage disease
exact
PHKB-related glycogen storage disease type IX
exact
glycogen storage disease 9B
exact
glycogen storage disease IXb
exact
glycogen storage disease caused by mutation in PHKB
exact
glycogen storage disease type 9B
exact
glycogen storage disease type IXb
exact
glycogenosis due to liver and muscle phosphorylase kinase deficiency
exact
glycogenosis type 9B
exact
glycogenosis type IXb
exact