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Echinobase
Summary Literature (0)
DOID:0111043 - glycogen storage disease IXc


Disease Ontology 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.

Synonyms: GSD type 9C, GSD type IXc, GSD9C, glycogen storage disease type 9C, glycogen storage disease type IXc, glycogenosis type 9C, glycogenosis type IXc,

Echinobase Genes :


OMIM:
MIM:613027 - glycogen storage disease ixc; gsd9c

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): glycogen storage disease IX (is_a)