glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
MONDO:0016118
obsolete muscular glycogenosis (obsolete MONDO:0016118)
excluded_subClassOf
MONDO:0016333
familial dilated cardiomyopathy
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
Andersen Disease (GSD IV)
exact
Andersen disease
exact
Andersen's disease
exact
GBE1 glycogen storage disease
exact
GSD IV
related
GSD due to glycogen branching enzyme deficiency
exact
GSD type 4
exact
GSD type IV
exact
GSD4
related
amylopectinosis
exact
glycogen storage disease IV
related
glycogen storage disease caused by mutation in GBE1
exact
glycogen storage disease due to glycogen branching enzyme deficiency
exact
glycogen storage disease type 4
exact
glycogen storage disease type IV
exact
glycogenosis due to glycogen branching enzyme deficiency
exact
glycogenosis type 4
exact
glycogenosis type IV
exact