glycogen storage disease I
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
G6P deficiency
exact
GSD due to G6P deficiency
exact
GSD type 1
exact
GSD type I
exact
GSD1
exact
Glycogen Storage Disease Type I
exact
glycogen storage disease I
exact
glycogen storage disease due to G6P deficiency
exact
glycogen storage disease due to glucose-6-phosphatase deficiency
exact
glycogen storage disease type 1
exact
glycogen storage disease type I
exact
glycogen storage disease, type I
exact
glycogenosis type 1
exact
glycogenosis type I
exact
hepatorenal glycogenosis
exact
von Gierke disease
exact
von Gierke's disease
exact