|
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, glycogen storage disease type I, Glycogen storage disease, type I (disorder), glycogenosis type I, von Gierke disease, von Gierke's disease
Echinobase Genes
:
slc37a4
| MIM:232200 - glycogen storage disease ia; gsd1a |
| MIM:232220 - glycogen storage disease ib; gsd1b |
| MIM:232240 - glycogen storage disease ic |
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)