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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: Glycogen storage disease, type I, Glycogen storage disease, type I (disorder), deficiency of glucose-6-phosphatase, glycogen storage disease type I, glycogenosis type I, von Gierke disease, von Gierke's disease,
Xenbase Genes : slc37a4, g6pc1, g6pc1.2, g6pc1.3
MONDO:0002413 - glycogen storage disease I |
Other Model Organisms: AGR, 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 (is_a),
glycogen storage disease I (is_a)