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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory