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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: glycogenosis type 9C, glycogenosis type IXc, glycogen storage disease type 9C, glycogen storage disease type IXc, GSD9C, GSD type 9C, GSD type IXc
Xenbase Genes
:
phkg2
| MONDO:0013091 - glycogen storage disease IXc |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
genetic disease (is_a),
glycogen storage disease IX (is_a)