glycogen storage disease IXc (DOID:0111043)
Alliance: disease page
Synonyms: glycogen storage disease type 9C; glycogen storage disease type IXc; glycogenosis type 9C; glycogenosis type IXc; GSD9C; GSD type 9C; GSD type IXc
Alt IDs: OMIM:613027, ICD10CM:E74.0, MESH:C567809
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.