|
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 :
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)