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Disease Ontology Browser
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
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory