disorder of glycogen metabolism
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
MONDO:0000422
obsolete inborn glycogen metabolism disorder (obsolete MONDO:0000422)
excluded_subClassOf
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
MONDO:0019243
inborn disorder of energy metabolism
is_a
GSD
exact
glycogen storage disease
exact
glycogen storage disorder
exact
glycogenoses
exact
glycogenosis
exact
inborn error of glycogen metabolic process
exact
inborn glycogen metabolic process disorder
exact
inborn glycogen storage disorder
exact
rare inborn error of glycogen metabolic process
exact
SPAC1039.11c SPBC4C3.09 SPAC1556.08c SPBC4C3.08 SPAPB24D3.10c SPBC16H5.02 SPBC14F5.04c SPBPB21E7.01c SPAC5H10.12c SPAC26F1.06 SPAC30D11.01c SPAC186.08c SPBC1815.01