glycogen storage disease IXc

Term ID

DOID:0111043

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. (2)

References

• ICD10CM:E74.0
• MESH:C567809
• OMIM:613027

Ontology

Human Disease   ( DOID:0111043 )