glycogen storage disease Ia

Summary

DOID:2749 - glycogen storage disease Ia

Disease Ontology Definition:A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.

Synonyms: deficiency of glucose-6-phosphatase, glycogenosis type I, glycogen storage disease type I, Glycogen storage disease, type I, Glycogen storage disease, type I (disorder), von Gierke disease, von Gierke's disease

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc37a4, g6pc1, g6pc1.2, g6pc1.3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0002413 - glycogen storage disease I

MONDO:0002413 - glycogen storage disease I

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), glycogen storage disease I (is_a), glycogen storage disease (is_a)