Term Name:	glycogen storage disease IXc
Synonyms:	glycogen storage disease type 9C, glycogen storage disease type IXc, glycogenosis type 9C, glycogenosis type IXc, GSD type 9C, GSD type IXc, GSD9C
Definition:	A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
Ontology:	Human Disease [DOID:0111043]   ( DOID:0111043 )